Canonical Allele Identifier: CA886043817

Gene: MTHFR

Linked Data

• dbSNP Id: rs1273766206
• gnomAD v3: 1-11795444-T-TCAGG
• gnomAD v4: 1-11795444-T-TCAGG
• MyVariant Identifiers: chr1:g.11855501_11855502insCAGG (hg19) ; chr1:g.11795444_11795445insCAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795448_11795451dup , CM000663.2:g.11795448_11795451dup	GRCh38
NC_000001.10:g.11855505_11855508dup , CM000663.1:g.11855505_11855508dup	GRCh37
NC_000001.9:g.11778092_11778095dup	NCBI36
NG_013351.1:g.15656_15659dup , LRG_726:g.15656_15659dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.904-100_904-97dup	ENSP00000365770.1:n.904-100_904-97dup
ENST00000376590.9:c.781-100_781-97dup MANE Select	ENSP00000365775.3:n.781-100_781-97dup
ENST00000376592.6:c.781-100_781-97dup	ENSP00000365777.1:n.781-100_781-97dup
ENST00000423400.7:c.901-100_901-97dup	ENSP00000398908.3:n.901-100_901-97dup
ENST00000641407.1:c.781-100_781-97dup	ENSP00000493098.1:n.781-100_781-97dup
ENST00000641446.1:c.781-100_781-97dup	ENSP00000493262.1:n.781-100_781-97dup
ENST00000641721.1:n.644-100_644-97dup
ENST00000641747.1:c.*293-100_*293-97dup	ENSP00000493116.1:n.*293-100_*293-97dup
ENST00000641759.1:n.916-100_916-97dup
ENST00000641805.1:n.1064-100_1064-97dup
ENST00000641820.1:c.46-100_46-97dup	ENSP00000492937.1:n.46-100_46-97dup
ENST00000376583.7:c.904-100_904-97dup	ENSP00000365767.3:n.904-100_904-97dup
ENST00000376585.5:c.904-100_904-97dup	ENSP00000365770.1:n.904-100_904-97dup
ENST00000376590.7:c.781-100_781-97dup	ENSP00000365775.3:n.781-100_781-97dup
ENST00000376592.5:c.781-100_781-97dup	ENSP00000365777.1:n.781-100_781-97dup
NM_005957.4:c.781-100_781-97dup , LRG_726t1:c.781-100_781-97dup	NP_005948.3:n.781-100_781-97dup
XM_005263458.2:c.904-100_904-97dup	XP_005263515.1:n.904-100_904-97dup
XM_005263460.3:c.781-100_781-97dup	XP_005263517.1:n.781-100_781-97dup
XM_005263461.3:c.781-100_781-97dup	XP_005263518.1:n.781-100_781-97dup
XM_005263462.3:c.781-100_781-97dup	XP_005263519.1:n.781-100_781-97dup
XM_005263463.2:c.535-100_535-97dup	XP_005263520.1:n.535-100_535-97dup
XM_011541495.1:c.901-100_901-97dup	XP_011539797.1:n.901-100_901-97dup
XM_011541496.1:c.904-100_904-97dup	XP_011539798.1:n.904-100_904-97dup
NM_001330358.1:c.904-100_904-97dup	NP_001317287.1:n.904-100_904-97dup
XM_005263460.5:c.781-100_781-97dup	XP_005263517.1:n.781-100_781-97dup
XM_005263462.4:c.781-100_781-97dup	XP_005263519.1:n.781-100_781-97dup
XM_005263463.4:c.535-100_535-97dup	XP_005263520.1:n.535-100_535-97dup
XM_011541495.3:c.901-100_901-97dup	XP_011539797.1:n.901-100_901-97dup
XM_011541496.3:c.904-100_904-97dup	XP_011539798.1:n.904-100_904-97dup
XM_017001328.2:c.904-100_904-97dup	XP_016856817.1:n.904-100_904-97dup
XM_024447198.1:c.535-100_535-97dup	XP_024302966.1:n.535-100_535-97dup
XR_002956640.1:n.1648-100_1648-97dup
NM_005957.5:c.781-100_781-97dup MANE Select	NP_005948.3:n.781-100_781-97dup
NM_001330358.2:c.904-100_904-97dup	NP_001317287.1:n.904-100_904-97dup