Canonical Allele Identifier: CA1153799262
Gene: MTHFR HGNC NCBI

Linked Data

dbSNP Id: rs1644205874

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794548_11794549insA , CM000663.2:g.11794548_11794549insA GRCh38
NC_000001.10:g.11854605_11854606insA , CM000663.1:g.11854605_11854606insA GRCh37
NC_000001.9:g.11777192_11777193insA NCBI36
NG_013351.1:g.16555_16556insT , LRG_726:g.16555_16556insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1290-11_1290-10insT ENSP00000365770.1:n.1290-11_1290-10insT
ENST00000376590.9:c.1167-11_1167-10insT MANE Select ENSP00000365775.3:n.1167-11_1167-10insT
ENST00000376592.6:c.1167-11_1167-10insT ENSP00000365777.1:n.1167-11_1167-10insT
ENST00000423400.7:c.1287-11_1287-10insT ENSP00000398908.3:n.1287-11_1287-10insT
ENST00000641407.1:c.1167-11_1167-10insT ENSP00000493098.1:n.1167-11_1167-10insT
ENST00000641446.1:c.1167-11_1167-10insT ENSP00000493262.1:n.1167-11_1167-10insT
ENST00000641747.1:c.*679-11_*679-10insT ENSP00000493116.1:n.*679-11_*679-10insT
ENST00000641759.1:n.1536-11_1536-10insT
ENST00000641805.1:n.1684-11_1684-10insT
ENST00000641820.1:c.432-11_432-10insT ENSP00000492937.1:n.432-11_432-10insT
ENST00000376583.7:c.1290-11_1290-10insT ENSP00000365767.3:n.1290-11_1290-10insT
ENST00000376585.5:c.1290-11_1290-10insT ENSP00000365770.1:n.1290-11_1290-10insT
ENST00000376590.7:c.1167-11_1167-10insT ENSP00000365775.3:n.1167-11_1167-10insT
ENST00000376592.5:c.1167-11_1167-10insT ENSP00000365777.1:n.1167-11_1167-10insT
NM_005957.4:c.1167-11_1167-10insT , LRG_726t1:c.1167-11_1167-10insT NP_005948.3:n.1167-11_1167-10insT
XM_005263458.2:c.1290-11_1290-10insT XP_005263515.1:n.1290-11_1290-10insT
XM_005263460.3:c.1167-11_1167-10insT XP_005263517.1:n.1167-11_1167-10insT
XM_005263461.3:c.1167-11_1167-10insT XP_005263518.1:n.1167-11_1167-10insT
XM_005263462.3:c.1167-11_1167-10insT XP_005263519.1:n.1167-11_1167-10insT
XM_005263463.2:c.921-11_921-10insT XP_005263520.1:n.921-11_921-10insT
XM_011541495.1:c.1287-11_1287-10insT XP_011539797.1:n.1287-11_1287-10insT
XM_011541496.1:c.1290-11_1290-10insT XP_011539798.1:n.1290-11_1290-10insT
NM_001330358.1:c.1290-11_1290-10insT NP_001317287.1:n.1290-11_1290-10insT
XM_005263460.5:c.1167-11_1167-10insT XP_005263517.1:n.1167-11_1167-10insT
XM_005263462.4:c.1167-11_1167-10insT XP_005263519.1:n.1167-11_1167-10insT
XM_005263463.4:c.921-11_921-10insT XP_005263520.1:n.921-11_921-10insT
XM_011541495.3:c.1287-11_1287-10insT XP_011539797.1:n.1287-11_1287-10insT
XM_011541496.3:c.1290-11_1290-10insT XP_011539798.1:n.1290-11_1290-10insT
XM_017001328.2:c.1290-11_1290-10insT XP_016856817.1:n.1290-11_1290-10insT
XM_024447198.1:c.921-11_921-10insT XP_024302966.1:n.921-11_921-10insT
XR_002956640.1:n.2268-11_2268-10insT
NM_005957.5:c.1167-11_1167-10insT MANE Select NP_005948.3:n.1167-11_1167-10insT
NM_001330358.2:c.1290-11_1290-10insT NP_001317287.1:n.1290-11_1290-10insT