Canonical Allele Identifier: CA595450
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 2172508
ClinVar RCV Id: RCV003097620
dbSNP Id: rs768873896
gnomAD v2: 1-11854879-C-T
gnomAD v3: 1-11794822-C-T
gnomAD v4: 1-11794822-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794822C>T , CM000663.2:g.11794822C>T GRCh38
NC_000001.10:g.11854879C>T , CM000663.1:g.11854879C>T GRCh37
NC_000001.9:g.11777466C>T NCBI36
NG_013351.1:g.16282G>A , LRG_726:g.16282G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1196G>A ENSP00000365770.1:p.Arg399Gln
ENST00000376590.9:c.1073G>A MANE Select ENSP00000365775.3:p.Arg358Gln
ENST00000376592.6:c.1073G>A ENSP00000365777.1:p.Arg358Gln
ENST00000423400.7:c.1193G>A ENSP00000398908.3:p.Arg398Gln
ENST00000641407.1:c.1073G>A ENSP00000493098.1:p.Arg358Gln
ENST00000641446.1:c.1073G>A ENSP00000493262.1:p.Arg358Gln
ENST00000641747.1:c.*585G>A ENSP00000493116.1:n.*585G>A
ENST00000641759.1:n.1442G>A
ENST00000641805.1:n.1590G>A
ENST00000641820.1:c.338G>A ENSP00000492937.1:p.Arg113Gln
ENST00000376583.7:c.1196G>A ENSP00000365767.3:p.Arg399Gln
ENST00000376585.5:c.1196G>A ENSP00000365770.1:p.Arg399Gln
ENST00000376590.7:c.1073G>A ENSP00000365775.3:p.Arg358Gln
ENST00000376592.5:c.1073G>A ENSP00000365777.1:p.Arg358Gln
NM_005957.4:c.1073G>A , LRG_726t1:c.1073G>A NP_005948.3:p.Arg358Gln
XM_005263458.2:c.1196G>A XP_005263515.1:p.Arg399Gln
XM_005263460.3:c.1073G>A XP_005263517.1:p.Arg358Gln
XM_005263461.3:c.1073G>A XP_005263518.1:p.Arg358Gln
XM_005263462.3:c.1073G>A XP_005263519.1:p.Arg358Gln
XM_005263463.2:c.827G>A XP_005263520.1:p.Arg276Gln
XM_011541495.1:c.1193G>A XP_011539797.1:p.Arg398Gln
XM_011541496.1:c.1196G>A XP_011539798.1:p.Arg399Gln
NM_001330358.1:c.1196G>A NP_001317287.1:p.Arg399Gln
XM_005263460.5:c.1073G>A XP_005263517.1:p.Arg358Gln
XM_005263462.4:c.1073G>A XP_005263519.1:p.Arg358Gln
XM_005263463.4:c.827G>A XP_005263520.1:p.Arg276Gln
XM_011541495.3:c.1193G>A XP_011539797.1:p.Arg398Gln
XM_011541496.3:c.1196G>A XP_011539798.1:p.Arg399Gln
XM_017001328.2:c.1196G>A XP_016856817.1:p.Arg399Gln
XM_024447198.1:c.827G>A XP_024302966.1:p.Arg276Gln
XR_002956640.1:n.2174G>A
NM_005957.5:c.1073G>A MANE Select NP_005948.3:p.Arg358Gln
NM_001330358.2:c.1196G>A NP_001317287.1:p.Arg399Gln