Canonical Allele Identifier: CA595490
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 700666
ClinVar RCV Id: RCV000868936
dbSNP Id: rs147727428
gnomAD v2: 1-11855184-C-T
gnomAD v3: 1-11795127-C-T
gnomAD v4: 1-11795127-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11795127C>T , CM000663.2:g.11795127C>T GRCh38
NC_000001.10:g.11855184C>T , CM000663.1:g.11855184C>T GRCh37
NC_000001.9:g.11777771C>T NCBI36
NG_013351.1:g.15977G>A , LRG_726:g.15977G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1125G>A ENSP00000365770.1:p.Lys375=
ENST00000376590.9:c.1002G>A MANE Select ENSP00000365775.3:p.Lys334=
ENST00000376592.6:c.1002G>A ENSP00000365777.1:p.Lys334=
ENST00000423400.7:c.1122G>A ENSP00000398908.3:p.Lys374=
ENST00000641407.1:c.1002G>A ENSP00000493098.1:p.Lys334=
ENST00000641446.1:c.1002G>A ENSP00000493262.1:p.Lys334=
ENST00000641721.1:n.865G>A
ENST00000641747.1:c.*514G>A ENSP00000493116.1:n.*514G>A
ENST00000641759.1:n.1137G>A
ENST00000641805.1:n.1285G>A
ENST00000641820.1:c.267G>A ENSP00000492937.1:p.Lys89=
ENST00000376583.7:c.1125G>A ENSP00000365767.3:p.Lys375=
ENST00000376585.5:c.1125G>A ENSP00000365770.1:p.Lys375=
ENST00000376590.7:c.1002G>A ENSP00000365775.3:p.Lys334=
ENST00000376592.5:c.1002G>A ENSP00000365777.1:p.Lys334=
NM_005957.4:c.1002G>A , LRG_726t1:c.1002G>A NP_005948.3:p.Lys334=
XM_005263458.2:c.1125G>A XP_005263515.1:p.Lys375=
XM_005263460.3:c.1002G>A XP_005263517.1:p.Lys334=
XM_005263461.3:c.1002G>A XP_005263518.1:p.Lys334=
XM_005263462.3:c.1002G>A XP_005263519.1:p.Lys334=
XM_005263463.2:c.756G>A XP_005263520.1:p.Lys252=
XM_011541495.1:c.1122G>A XP_011539797.1:p.Lys374=
XM_011541496.1:c.1125G>A XP_011539798.1:p.Lys375=
NM_001330358.1:c.1125G>A NP_001317287.1:p.Lys375=
XM_005263460.5:c.1002G>A XP_005263517.1:p.Lys334=
XM_005263462.4:c.1002G>A XP_005263519.1:p.Lys334=
XM_005263463.4:c.756G>A XP_005263520.1:p.Lys252=
XM_011541495.3:c.1122G>A XP_011539797.1:p.Lys374=
XM_011541496.3:c.1125G>A XP_011539798.1:p.Lys375=
XM_017001328.2:c.1125G>A XP_016856817.1:p.Lys375=
XM_024447198.1:c.756G>A XP_024302966.1:p.Lys252=
XR_002956640.1:n.1869G>A
NM_005957.5:c.1002G>A MANE Select NP_005948.3:p.Lys334=
NM_001330358.2:c.1125G>A NP_001317287.1:p.Lys375=