Canonical Allele Identifier: CA180202
Gene: MTHFR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 167306
dbSNP Id: rs4846051

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794400G>A , CM000663.2:g.11794400G>A GRCh38
NC_000001.10:g.11854457G>A , CM000663.1:g.11854457G>A GRCh37
NC_000001.9:g.11777044G>A NCBI36
NG_013351.1:g.16704C>T , LRG_726:g.16704C>T

Transcript Alleles

HGVS Amino-acid change
NM_005957.4:c.1305C>T , LRG_726t1:c.1305C>T NP_005948.3:p.Phe435=
XM_005263458.2:c.1428C>T XP_005263515.1:p.Phe476=
XM_005263460.3:c.1305C>T XP_005263517.1:p.Phe435=
XM_005263461.3:c.1305C>T XP_005263518.1:p.Phe435=
XM_005263462.3:c.1305C>T XP_005263519.1:p.Phe435=
XM_005263463.2:c.1059C>T XP_005263520.1:p.Phe353=
XM_011541495.1:c.1425C>T XP_011539797.1:p.Phe475=
XM_011541496.1:c.1428C>T XP_011539798.1:p.Phe476=
NM_001330358.1:c.1428C>T VV NP_001317287.1:p.Phe476=
XM_005263460.5:c.1305C>T XP_005263517.1:p.Phe435=
XM_005263462.4:c.1305C>T XP_005263519.1:p.Phe435=
XM_005263463.4:c.1059C>T XP_005263520.1:p.Phe353=
XM_011541495.3:c.1425C>T XP_011539797.1:p.Phe475=
XM_011541496.3:c.1428C>T XP_011539798.1:p.Phe476=
XM_017001328.2:c.1428C>T XP_016856817.1:p.Phe476=
XM_024447198.1:c.1059C>T XP_024302966.1:p.Phe353=
XR_002956640.1:n.2406C>T
ENST00000376583.7:n.1428C>T ENSP00000365767.3:p.Phe476=
ENST00000376585.5:c.1428C>T ENSP00000365770.1:p.Phe476=
ENST00000376590.7:c.1305C>T ENSP00000365775.3:p.Phe435=
ENST00000376592.5:c.1305C>T ENSP00000365777.1:p.Phe435=