Canonical Allele Identifier: CA16044131
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 222895
ClinVar RCV Id: RCV000416691
dbSNP Id: rs1057519362

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11796326del , CM000663.2:g.11796326del GRCh38
NC_000001.10:g.11856383del , CM000663.1:g.11856383del GRCh37
NC_000001.9:g.11778970del NCBI36
NG_013351.1:g.14780del , LRG_726:g.14780del

Transcript Alleles

HGVS Amino-acid change
ENST00000376486.3:c.662del ENSP00000365669.3:p.Gly221GlufsTer?
ENST00000376585.6:c.785del ENSP00000365770.1:p.Gly262GlufsTer20
ENST00000376590.9:c.662del MANE Select ENSP00000365775.3:p.Gly221GlufsTer20
ENST00000376592.6:c.662del ENSP00000365777.1:p.Gly221GlufsTer20
ENST00000423400.7:c.782del ENSP00000398908.3:p.Gly261GlufsTer20
ENST00000641407.1:c.662del ENSP00000493098.1:p.Gly221GlufsTer20
ENST00000641446.1:c.662del ENSP00000493262.1:p.Gly221GlufsTer20
ENST00000641721.1:n.644-976del
ENST00000641747.1:c.*174del ENSP00000493116.1:n.*174del
ENST00000641759.1:n.797del
ENST00000641805.1:n.945del
ENST00000641820.1:c.-74del ENSP00000492937.1:n.-74del
ENST00000376583.7:c.785del ENSP00000365767.3:p.Gly262GlufsTer20
ENST00000376585.5:c.785del ENSP00000365770.1:p.Gly262GlufsTer20
ENST00000376590.7:c.662del ENSP00000365775.3:p.Gly221GlufsTer20
ENST00000376592.5:c.662del ENSP00000365777.1:p.Gly221GlufsTer20
NM_005957.4:c.662del , LRG_726t1:c.662del NP_005948.3:p.Gly221GlufsTer20
XM_005263458.2:c.785del XP_005263515.1:p.Gly262GlufsTer20
XM_005263460.3:c.662del XP_005263517.1:p.Gly221GlufsTer20
XM_005263461.3:c.662del XP_005263518.1:p.Gly221GlufsTer20
XM_005263462.3:c.662del XP_005263519.1:p.Gly221GlufsTer20
XM_005263463.2:c.416del XP_005263520.1:p.Gly139GlufsTer20
XM_011541495.1:c.782del XP_011539797.1:p.Gly261GlufsTer20
XM_011541496.1:c.785del XP_011539798.1:p.Gly262GlufsTer20
NM_001330358.1:c.785del NP_001317287.1:p.Gly262GlufsTer20
XM_005263460.5:c.662del XP_005263517.1:p.Gly221GlufsTer20
XM_005263462.4:c.662del XP_005263519.1:p.Gly221GlufsTer20
XM_005263463.4:c.416del XP_005263520.1:p.Gly139GlufsTer20
XM_011541495.3:c.782del XP_011539797.1:p.Gly261GlufsTer20
XM_011541496.3:c.785del XP_011539798.1:p.Gly262GlufsTer20
XM_017001328.2:c.785del XP_016856817.1:p.Gly262GlufsTer20
XM_024447198.1:c.416del XP_024302966.1:p.Gly139GlufsTer20
XR_002956640.1:n.1529del
NM_005957.5:c.662del MANE Select NP_005948.3:p.Gly221GlufsTer20
NM_001330358.2:c.785del NP_001317287.1:p.Gly262GlufsTer20