Canonical Allele Identifier: CA116323
Gene: MTHFR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3527
ClinVar RCV Id: RCV000003705
dbSNP Id: rs45590836

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11791216C>T , CM000663.2:g.11791216C>T GRCh38
NC_000001.10:g.11851273C>T , CM000663.1:g.11851273C>T GRCh37
NC_000001.9:g.11773860C>T NCBI36
NG_013351.1:g.19888G>A , LRG_726:g.19888G>A

Transcript Alleles

HGVS Amino-acid change
NM_005957.4:c.1743G>A , LRG_726t1:c.1743G>A NP_005948.3:p.Met581Ile
XM_005263458.2:c.1866G>A XP_005263515.1:p.Met622Ile
XM_005263460.3:c.1743G>A XP_005263517.1:p.Met581Ile
XM_005263461.3:c.1743G>A XP_005263518.1:p.Met581Ile
XM_005263462.3:c.1743G>A XP_005263519.1:p.Met581Ile
XM_005263463.2:c.1497G>A XP_005263520.1:p.Met499Ile
XM_011541495.1:c.1863G>A XP_011539797.1:p.Met621Ile
XM_011541496.1:c.1866G>A XP_011539798.1:p.Met622Ile
NM_001330358.1:c.1866G>A VV NP_001317287.1:p.Met622Ile
XM_005263460.5:c.1743G>A
XM_005263462.4:c.1743G>A
XM_005263463.4:c.1497G>A
XM_011541495.3:c.1863G>A
XM_011541496.3:c.1866G>A
XM_017001328.2:c.1866G>A XP_016856817.1:p.Met622Ile
XM_024447198.1:c.1497G>A XP_024302966.1:p.Met499Ile
XR_002956640.1:n.2844G>A
ENST00000376583.7:n.1866G>A ENSP00000365767.3:p.Met622Ile
ENST00000376585.5:c.1866G>A ENSP00000365770.1:p.Met622Ile
ENST00000376590.7:c.1743G>A ENSP00000365775.3:p.Met581Ile
ENST00000376592.5:c.1743G>A ENSP00000365777.1:p.Met581Ile