Canonical Allele Identifier: CA278061
Gene: MTHFR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3529
ClinVar RCV Id: RCV000003707
dbSNP Id: rs121434297

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11795161A>G , CM000663.2:g.11795161A>G GRCh38
NC_000001.9:g.11777805A>G NCBI36
NC_000001.10:g.11855218A>G , CM000663.1:g.11855218A>G GRCh37
NG_013351.1:g.15943T>C , LRG_726:g.15943T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376583.7:n.1091T>C ENSP00000365767.3:p.Leu364Pro
ENST00000376585.5:c.1091T>C ENSP00000365770.1:p.Leu364Pro
ENST00000376590.7:c.968T>C ENSP00000365775.3:p.Leu323Pro
ENST00000376592.5:c.968T>C ENSP00000365777.1:p.Leu323Pro
NM_005957.4:c.968T>C , LRG_726t1:c.968T>C NP_005948.3:p.Leu323Pro
XM_005263458.2:c.1091T>C XP_005263515.1:p.Leu364Pro
XM_005263460.3:c.968T>C XP_005263517.1:p.Leu323Pro
XM_005263461.3:c.968T>C XP_005263518.1:p.Leu323Pro
XM_005263462.3:c.968T>C XP_005263519.1:p.Leu323Pro
XM_005263463.2:c.722T>C XP_005263520.1:p.Leu241Pro
XM_011541495.1:c.1088T>C XP_011539797.1:p.Leu363Pro
XM_011541496.1:c.1091T>C XP_011539798.1:p.Leu364Pro