Canonical Allele Identifier: CA198604
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 187882
ClinVar RCV Id: RCV000167602
dbSNP Id: rs786204018

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11796222C>A , CM000663.2:g.11796222C>A GRCh38
NC_000001.10:g.11856279C>A , CM000663.1:g.11856279C>A GRCh37
NC_000001.9:g.11778866C>A NCBI36
NG_013351.1:g.14882G>T , LRG_726:g.14882G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.887G>T ENSP00000365770.1:p.Gly296Val
ENST00000376590.9:c.764G>T MANE Select ENSP00000365775.3:p.Gly255Val
ENST00000376592.6:c.764G>T ENSP00000365777.1:p.Gly255Val
ENST00000423400.7:c.884G>T ENSP00000398908.3:p.Gly295Val
ENST00000641407.1:c.764G>T ENSP00000493098.1:p.Gly255Val
ENST00000641446.1:c.764G>T ENSP00000493262.1:p.Gly255Val
ENST00000641721.1:n.644-874G>T
ENST00000641747.1:c.*276G>T ENSP00000493116.1:n.*276G>T
ENST00000641759.1:n.899G>T
ENST00000641805.1:n.1047G>T
ENST00000641820.1:c.29G>T ENSP00000492937.1:p.Gly10Val
ENST00000376583.7:c.887G>T ENSP00000365767.3:p.Gly296Val
ENST00000376585.5:c.887G>T ENSP00000365770.1:p.Gly296Val
ENST00000376590.7:c.764G>T ENSP00000365775.3:p.Gly255Val
ENST00000376592.5:c.764G>T ENSP00000365777.1:p.Gly255Val
NM_005957.4:c.764G>T , LRG_726t1:c.764G>T NP_005948.3:p.Gly255Val
XM_005263458.2:c.887G>T XP_005263515.1:p.Gly296Val
XM_005263460.3:c.764G>T XP_005263517.1:p.Gly255Val
XM_005263461.3:c.764G>T XP_005263518.1:p.Gly255Val
XM_005263462.3:c.764G>T XP_005263519.1:p.Gly255Val
XM_005263463.2:c.518G>T XP_005263520.1:p.Gly173Val
XM_011541495.1:c.884G>T XP_011539797.1:p.Gly295Val
XM_011541496.1:c.887G>T XP_011539798.1:p.Gly296Val
NM_001330358.1:c.887G>T NP_001317287.1:p.Gly296Val
XM_005263460.5:c.764G>T XP_005263517.1:p.Gly255Val
XM_005263462.4:c.764G>T XP_005263519.1:p.Gly255Val
XM_005263463.4:c.518G>T XP_005263520.1:p.Gly173Val
XM_011541495.3:c.884G>T XP_011539797.1:p.Gly295Val
XM_011541496.3:c.887G>T XP_011539798.1:p.Gly296Val
XM_017001328.2:c.887G>T XP_016856817.1:p.Gly296Val
XM_024447198.1:c.518G>T XP_024302966.1:p.Gly173Val
XR_002956640.1:n.1631G>T
NM_005957.5:c.764G>T MANE Select NP_005948.3:p.Gly255Val
NM_001330358.2:c.887G>T NP_001317287.1:p.Gly296Val