Canonical Allele Identifier: CA595440
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 700367
ClinVar RCV Id: RCV001428174
dbSNP Id: rs761540678
gnomAD v2: 1-11854806-G-A
gnomAD v3: 1-11794749-G-A
gnomAD v4: 1-11794749-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794749G>A , CM000663.2:g.11794749G>A GRCh38
NC_000001.10:g.11854806G>A , CM000663.1:g.11854806G>A GRCh37
NC_000001.9:g.11777393G>A NCBI36
NG_013351.1:g.16355C>T , LRG_726:g.16355C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1269C>T ENSP00000365770.1:p.Asp423=
ENST00000376590.9:c.1146C>T MANE Select ENSP00000365775.3:p.Asp382=
ENST00000376592.6:c.1146C>T ENSP00000365777.1:p.Asp382=
ENST00000423400.7:c.1266C>T ENSP00000398908.3:p.Asp422=
ENST00000641407.1:c.1146C>T ENSP00000493098.1:p.Asp382=
ENST00000641446.1:c.1146C>T ENSP00000493262.1:p.Asp382=
ENST00000641747.1:c.*658C>T ENSP00000493116.1:n.*658C>T
ENST00000641759.1:n.1515C>T
ENST00000641805.1:n.1663C>T
ENST00000641820.1:c.411C>T ENSP00000492937.1:p.Asp137=
ENST00000376583.7:c.1269C>T ENSP00000365767.3:p.Asp423=
ENST00000376585.5:c.1269C>T ENSP00000365770.1:p.Asp423=
ENST00000376590.7:c.1146C>T ENSP00000365775.3:p.Asp382=
ENST00000376592.5:c.1146C>T ENSP00000365777.1:p.Asp382=
NM_005957.4:c.1146C>T , LRG_726t1:c.1146C>T NP_005948.3:p.Asp382=
XM_005263458.2:c.1269C>T XP_005263515.1:p.Asp423=
XM_005263460.3:c.1146C>T XP_005263517.1:p.Asp382=
XM_005263461.3:c.1146C>T XP_005263518.1:p.Asp382=
XM_005263462.3:c.1146C>T XP_005263519.1:p.Asp382=
XM_005263463.2:c.900C>T XP_005263520.1:p.Asp300=
XM_011541495.1:c.1266C>T XP_011539797.1:p.Asp422=
XM_011541496.1:c.1269C>T XP_011539798.1:p.Asp423=
NM_001330358.1:c.1269C>T NP_001317287.1:p.Asp423=
XM_005263460.5:c.1146C>T XP_005263517.1:p.Asp382=
XM_005263462.4:c.1146C>T XP_005263519.1:p.Asp382=
XM_005263463.4:c.900C>T XP_005263520.1:p.Asp300=
XM_011541495.3:c.1266C>T XP_011539797.1:p.Asp422=
XM_011541496.3:c.1269C>T XP_011539798.1:p.Asp423=
XM_017001328.2:c.1269C>T XP_016856817.1:p.Asp423=
XM_024447198.1:c.900C>T XP_024302966.1:p.Asp300=
XR_002956640.1:n.2247C>T
NM_005957.5:c.1146C>T MANE Select NP_005948.3:p.Asp382=
NM_001330358.2:c.1269C>T NP_001317287.1:p.Asp423=