Canonical Allele Identifier: CA338479241
Gene: MTHFR HGNC NCBI

Linked Data

gnomAD v4: 1-11794732-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794732C>A , CM000663.2:g.11794732C>A GRCh38
NC_000001.10:g.11854789C>A , CM000663.1:g.11854789C>A GRCh37
NC_000001.9:g.11777376C>A NCBI36
NG_013351.1:g.16372G>T , LRG_726:g.16372G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1286G>T ENSP00000365770.1:p.Arg429Leu
ENST00000376590.9:c.1163G>T MANE Select ENSP00000365775.3:p.Arg388Leu
ENST00000376592.6:c.1163G>T ENSP00000365777.1:p.Arg388Leu
ENST00000423400.7:c.1283G>T ENSP00000398908.3:p.Arg428Leu
ENST00000641407.1:c.1163G>T ENSP00000493098.1:p.Arg388Leu
ENST00000641446.1:c.1163G>T ENSP00000493262.1:p.Arg388Leu
ENST00000641747.1:c.*675G>T ENSP00000493116.1:n.*675G>T
ENST00000641759.1:n.1532G>T
ENST00000641805.1:n.1680G>T
ENST00000641820.1:c.428G>T ENSP00000492937.1:p.Arg143Leu
ENST00000376583.7:c.1286G>T ENSP00000365767.3:p.Arg429Leu
ENST00000376585.5:c.1286G>T ENSP00000365770.1:p.Arg429Leu
ENST00000376590.7:c.1163G>T ENSP00000365775.3:p.Arg388Leu
ENST00000376592.5:c.1163G>T ENSP00000365777.1:p.Arg388Leu
NM_005957.4:c.1163G>T , LRG_726t1:c.1163G>T NP_005948.3:p.Arg388Leu
XM_005263458.2:c.1286G>T XP_005263515.1:p.Arg429Leu
XM_005263460.3:c.1163G>T XP_005263517.1:p.Arg388Leu
XM_005263461.3:c.1163G>T XP_005263518.1:p.Arg388Leu
XM_005263462.3:c.1163G>T XP_005263519.1:p.Arg388Leu
XM_005263463.2:c.917G>T XP_005263520.1:p.Arg306Leu
XM_011541495.1:c.1283G>T XP_011539797.1:p.Arg428Leu
XM_011541496.1:c.1286G>T XP_011539798.1:p.Arg429Leu
NM_001330358.1:c.1286G>T NP_001317287.1:p.Arg429Leu
XM_005263460.5:c.1163G>T XP_005263517.1:p.Arg388Leu
XM_005263462.4:c.1163G>T XP_005263519.1:p.Arg388Leu
XM_005263463.4:c.917G>T XP_005263520.1:p.Arg306Leu
XM_011541495.3:c.1283G>T XP_011539797.1:p.Arg428Leu
XM_011541496.3:c.1286G>T XP_011539798.1:p.Arg429Leu
XM_017001328.2:c.1286G>T XP_016856817.1:p.Arg429Leu
XM_024447198.1:c.917G>T XP_024302966.1:p.Arg306Leu
XR_002956640.1:n.2264G>T
NM_005957.5:c.1163G>T MANE Select NP_005948.3:p.Arg388Leu
NM_001330358.2:c.1286G>T NP_001317287.1:p.Arg429Leu