Canonical Allele Identifier: CA595462
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 222896
ClinVar RCV Id: RCV000416797
dbSNP Id: rs759031330
gnomAD v3: 1-11794862-G-A
gnomAD v4: 1-11794862-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794862G>A , CM000663.2:g.11794862G>A GRCh38
NC_000001.10:g.11854919G>A , CM000663.1:g.11854919G>A GRCh37
NC_000001.9:g.11777506G>A NCBI36
NG_013351.1:g.16242C>T , LRG_726:g.16242C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.1156C>T ENSP00000365770.1:p.Arg386Cys
ENST00000376590.9:c.1033C>T MANE Select ENSP00000365775.3:p.Arg345Cys
ENST00000376592.6:c.1033C>T ENSP00000365777.1:p.Arg345Cys
ENST00000423400.7:c.1153C>T ENSP00000398908.3:p.Arg385Cys
ENST00000641407.1:c.1033C>T ENSP00000493098.1:p.Arg345Cys
ENST00000641446.1:c.1033C>T ENSP00000493262.1:p.Arg345Cys
ENST00000641747.1:c.*545C>T ENSP00000493116.1:n.*545C>T
ENST00000641759.1:n.1402C>T
ENST00000641805.1:n.1550C>T
ENST00000641820.1:c.298C>T ENSP00000492937.1:p.Arg100Cys
ENST00000376583.7:c.1156C>T ENSP00000365767.3:p.Arg386Cys
ENST00000376585.5:c.1156C>T ENSP00000365770.1:p.Arg386Cys
ENST00000376590.7:c.1033C>T ENSP00000365775.3:p.Arg345Cys
ENST00000376592.5:c.1033C>T ENSP00000365777.1:p.Arg345Cys
NM_005957.4:c.1033C>T , LRG_726t1:c.1033C>T NP_005948.3:p.Arg345Cys
XM_005263458.2:c.1156C>T XP_005263515.1:p.Arg386Cys
XM_005263460.3:c.1033C>T XP_005263517.1:p.Arg345Cys
XM_005263461.3:c.1033C>T XP_005263518.1:p.Arg345Cys
XM_005263462.3:c.1033C>T XP_005263519.1:p.Arg345Cys
XM_005263463.2:c.787C>T XP_005263520.1:p.Arg263Cys
XM_011541495.1:c.1153C>T XP_011539797.1:p.Arg385Cys
XM_011541496.1:c.1156C>T XP_011539798.1:p.Arg386Cys
NM_001330358.1:c.1156C>T NP_001317287.1:p.Arg386Cys
XM_005263460.5:c.1033C>T XP_005263517.1:p.Arg345Cys
XM_005263462.4:c.1033C>T XP_005263519.1:p.Arg345Cys
XM_005263463.4:c.787C>T XP_005263520.1:p.Arg263Cys
XM_011541495.3:c.1153C>T XP_011539797.1:p.Arg385Cys
XM_011541496.3:c.1156C>T XP_011539798.1:p.Arg386Cys
XM_017001328.2:c.1156C>T XP_016856817.1:p.Arg386Cys
XM_024447198.1:c.787C>T XP_024302966.1:p.Arg263Cys
XR_002956640.1:n.2134C>T
NM_005957.5:c.1033C>T MANE Select NP_005948.3:p.Arg345Cys
NM_001330358.2:c.1156C>T NP_001317287.1:p.Arg386Cys