Canonical Allele Identifier: CA198658
Gene: MTHFR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 187904
ClinVar RCV Id: RCV000167624
dbSNP Id: rs758206023

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790843G>C , CM000663.2:g.11790843G>C GRCh38
NC_000001.10:g.11850900G>C , CM000663.1:g.11850900G>C GRCh37
NC_000001.9:g.11773487G>C NCBI36
NG_013351.1:g.20261C>G , LRG_726:g.20261C>G

Transcript Alleles

HGVS Amino-acid change
NM_005957.4:c.1808C>G , LRG_726t1:c.1808C>G NP_005948.3:p.Ser603Cys
XM_005263458.2:c.1931C>G XP_005263515.1:p.Ser644Cys
XM_005263460.3:c.1808C>G XP_005263517.1:p.Ser603Cys
XM_005263461.3:c.1808C>G XP_005263518.1:p.Ser603Cys
XM_005263462.3:c.1808C>G XP_005263519.1:p.Ser603Cys
XM_005263463.2:c.1562C>G XP_005263520.1:p.Ser521Cys
XM_011541495.1:c.1928C>G XP_011539797.1:p.Ser643Cys
XM_011541496.1:c.1876-127C>G XP_011539798.1:p.=
NM_001330358.1:c.1931C>G VV NP_001317287.1:p.Ser644Cys
XM_005263460.5:c.1808C>G XP_005263517.1:p.Ser603Cys
XM_005263462.4:c.1808C>G XP_005263519.1:p.Ser603Cys
XM_005263463.4:c.1562C>G XP_005263520.1:p.Ser521Cys
XM_011541495.3:c.1928C>G XP_011539797.1:p.Ser643Cys
XM_011541496.3:c.1876-127C>G XP_011539798.1:p.=
XM_017001328.2:c.1876-95C>G XP_016856817.1:p.=
XM_024447198.1:c.1562C>G XP_024302966.1:p.Ser521Cys
XR_002956640.1:n.2854-127C>G
ENST00000376583.7:n.1931C>G ENSP00000365767.3:p.Ser644Cys
ENST00000376585.5:c.1931C>G ENSP00000365770.1:p.Ser644Cys
ENST00000376590.7:c.1808C>G ENSP00000365775.3:p.Ser603Cys
ENST00000376592.5:c.1808C>G ENSP00000365777.1:p.Ser603Cys