Canonical Allele Identifier: CA595451
Gene: MTHFR HGNC NCBI

Linked Data

dbSNP Id: rs768873896
gnomAD v2: 1-11854879-C-G
gnomAD v4: 1-11794822-C-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1196G>C ENSP00000365770.1:p.Arg399Pro
ENST00000376590.9:c.1073G>C MANE Select ENSP00000365775.3:p.Arg358Pro
ENST00000376592.6:c.1073G>C ENSP00000365777.1:p.Arg358Pro
ENST00000423400.7:c.1193G>C ENSP00000398908.3:p.Arg398Pro
ENST00000641407.1:c.1073G>C ENSP00000493098.1:p.Arg358Pro
ENST00000641446.1:c.1073G>C ENSP00000493262.1:p.Arg358Pro
ENST00000641747.1:c.*585G>C ENSP00000493116.1:n.*585G>C
ENST00000641759.1:n.1442G>C
ENST00000641805.1:n.1590G>C
ENST00000641820.1:c.338G>C ENSP00000492937.1:p.Arg113Pro
ENST00000376583.7:c.1196G>C ENSP00000365767.3:p.Arg399Pro
ENST00000376585.5:c.1196G>C ENSP00000365770.1:p.Arg399Pro
ENST00000376590.7:c.1073G>C ENSP00000365775.3:p.Arg358Pro
ENST00000376592.5:c.1073G>C ENSP00000365777.1:p.Arg358Pro
NM_005957.4:c.1073G>C , LRG_726t1:c.1073G>C NP_005948.3:p.Arg358Pro
XM_005263458.2:c.1196G>C XP_005263515.1:p.Arg399Pro
XM_005263460.3:c.1073G>C XP_005263517.1:p.Arg358Pro
XM_005263461.3:c.1073G>C XP_005263518.1:p.Arg358Pro
XM_005263462.3:c.1073G>C XP_005263519.1:p.Arg358Pro
XM_005263463.2:c.827G>C XP_005263520.1:p.Arg276Pro
XM_011541495.1:c.1193G>C XP_011539797.1:p.Arg398Pro
XM_011541496.1:c.1196G>C XP_011539798.1:p.Arg399Pro
NM_001330358.1:c.1196G>C NP_001317287.1:p.Arg399Pro
XM_005263460.5:c.1073G>C XP_005263517.1:p.Arg358Pro
XM_005263462.4:c.1073G>C XP_005263519.1:p.Arg358Pro
XM_005263463.4:c.827G>C XP_005263520.1:p.Arg276Pro
XM_011541495.3:c.1193G>C XP_011539797.1:p.Arg398Pro
XM_011541496.3:c.1196G>C XP_011539798.1:p.Arg399Pro
XM_017001328.2:c.1196G>C XP_016856817.1:p.Arg399Pro
XM_024447198.1:c.827G>C XP_024302966.1:p.Arg276Pro
XR_002956640.1:n.2174G>C
NM_005957.5:c.1073G>C MANE Select NP_005948.3:p.Arg358Pro
NM_001330358.2:c.1196G>C NP_001317287.1:p.Arg399Pro