Canonical Allele Identifier: CA416362372
Gene: MTHFR HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11854792_11854793insGGCAAGCACACCGCGCCCCCAGGAGGGGGTAGGCAGGGGCACACGCTGGGCCAGGGGGTAGAGCTTCTGCT (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794735_11794736insGGCAAGCACACCGCGCCCCCAGGAGGGGGTAGGCAGGGGCACACGCTGGGCCAGGGGGTAGAGCTTCTGCT , CM000663.2:g.11794735_11794736insGGCAAGCACACCGCGCCCCCAGGAGGGGGTAGGCAGGGGCACACGCTGGGCCAGGGGGTAGAGCTTCTGCT GRCh38
NC_000001.10:g.11854792_11854793insGGCAAGCACACCGCGCCCCCAGGAGGGGGTAGGCAGGGGCACACGCTGGGCCAGGGGGTAGAGCTTCTGCT , CM000663.1:g.11854792_11854793insGGCAAGCACACCGCGCCCCCAGGAGGGGGTAGGCAGGGGCACACGCTGGGCCAGGGGGTAGAGCTTCTGCT GRCh37
NC_000001.9:g.11777379_11777380insGGCAAGCACACCGCGCCCCCAGGAGGGGGTAGGCAGGGGCACACGCTGGGCCAGGGGGTAGAGCTTCTGCT NCBI36
NG_013351.1:g.16368_16369insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC , LRG_726:g.16368_16369insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1282_1283insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC ENSP00000365770.1:p.Gly428GlufsTer38
ENST00000376590.9:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC MANE Select ENSP00000365775.3:p.Gly387GlufsTer38
ENST00000376592.6:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC ENSP00000365777.1:p.Gly387GlufsTer38
ENST00000423400.7:c.1279_1280insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC ENSP00000398908.3:p.Gly427GlufsTer38
ENST00000641407.1:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC ENSP00000493098.1:p.Gly387GlufsTer38
ENST00000641446.1:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC ENSP00000493262.1:p.Gly387GlufsTer38
ENST00000641747.1:c.*671_*672insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC ENSP00000493116.1:n.*671_*672insAGCAGAAGCTCTACCCCCTGGCCCAGCGT...
ENST00000641759.1:n.1528_1529insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC
ENST00000641805.1:n.1676_1677insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC
ENST00000641820.1:c.424_425insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC ENSP00000492937.1:p.Gly142GlufsTer38
ENST00000376583.7:c.1282_1283insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC ENSP00000365767.3:p.Gly428GlufsTer38
ENST00000376585.5:c.1282_1283insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC ENSP00000365770.1:p.Gly428GlufsTer38
ENST00000376590.7:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC ENSP00000365775.3:p.Gly387GlufsTer38
ENST00000376592.5:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC ENSP00000365777.1:p.Gly387GlufsTer38
NM_005957.4:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC , LRG_726t1:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC NP_005948.3:p.Gly387GlufsTer38
XM_005263458.2:c.1282_1283insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_005263515.1:p.Gly428GlufsTer38
XM_005263460.3:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_005263517.1:p.Gly387GlufsTer38
XM_005263461.3:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_005263518.1:p.Gly387GlufsTer38
XM_005263462.3:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_005263519.1:p.Gly387GlufsTer38
XM_005263463.2:c.913_914insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_005263520.1:p.Gly305GlufsTer38
XM_011541495.1:c.1279_1280insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_011539797.1:p.Gly427GlufsTer38
XM_011541496.1:c.1282_1283insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_011539798.1:p.Gly428GlufsTer38
NM_001330358.1:c.1282_1283insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC NP_001317287.1:p.Gly428GlufsTer38
XM_005263460.5:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_005263517.1:p.Gly387GlufsTer38
XM_005263462.4:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_005263519.1:p.Gly387GlufsTer38
XM_005263463.4:c.913_914insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_005263520.1:p.Gly305GlufsTer38
XM_011541495.3:c.1279_1280insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_011539797.1:p.Gly427GlufsTer38
XM_011541496.3:c.1282_1283insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_011539798.1:p.Gly428GlufsTer38
XM_017001328.2:c.1282_1283insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_016856817.1:p.Gly428GlufsTer38
XM_024447198.1:c.913_914insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC XP_024302966.1:p.Gly305GlufsTer38
XR_002956640.1:n.2260_2261insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC
NM_005957.5:c.1159_1160insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC MANE Select NP_005948.3:p.Gly387GlufsTer38
NM_001330358.2:c.1282_1283insAGCAGAAGCTCTACCCCCTGGCCCAGCGTGTGCCCCTGCCTACCCCCTCCTGGGGGCGCGGTGTGCTTGCC NP_001317287.1:p.Gly428GlufsTer38
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