Canonical Allele Identifier: CA198592
Gene: MTHFR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 187878
ClinVar RCV Id: RCV000167598
dbSNP Id: rs746353274

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11796342_11796344del , CM000663.2:g.11796342_11796344del GRCh38
NC_000001.10:g.11856399_11856401del , CM000663.1:g.11856399_11856401del GRCh37
NC_000001.9:g.11778986_11778988del NCBI36
NG_013351.1:g.14761_14763del , LRG_726:g.14761_14763del

Transcript Alleles

HGVS Amino-acid change
NM_005957.4:c.643_645del , LRG_726t1:c.643_645del NP_005948.3:p.Lys215del
XM_005263458.2:c.766_768del XP_005263515.1:p.Lys256del
XM_005263460.3:c.643_645del XP_005263517.1:p.Lys215del
XM_005263461.3:c.643_645del XP_005263518.1:p.Lys215del
XM_005263462.3:c.643_645del XP_005263519.1:p.Lys215del
XM_005263463.2:c.397_399del XP_005263520.1:p.Lys133del
XM_011541495.1:c.763_765del XP_011539797.1:p.Lys255del
XM_011541496.1:c.766_768del XP_011539798.1:p.Lys256del
NM_001330358.1:c.766_768del VV NP_001317287.1:p.Lys256del
XM_005263460.5:c.643_645del XP_005263517.1:p.Lys215del
XM_005263462.4:c.643_645del XP_005263519.1:p.Lys215del
XM_005263463.4:c.397_399del XP_005263520.1:p.Lys133del
XM_011541495.3:c.763_765del XP_011539797.1:p.Lys255del
XM_011541496.3:c.766_768del XP_011539798.1:p.Lys256del
XM_017001328.2:c.766_768del XP_016856817.1:p.Lys256del
XM_024447198.1:c.397_399del XP_024302966.1:p.Lys133del
XR_002956640.1:n.1510_1512del
ENST00000376583.7:n.766_768del ENSP00000365767.3:p.Lys256del
ENST00000376585.5:c.766_768del ENSP00000365770.1:p.Lys256del
ENST00000376590.7:c.643_645del ENSP00000365775.3:p.Lys215del
ENST00000376592.5:c.643_645del ENSP00000365777.1:p.Lys215del