Canonical Allele Identifier: CA2580060904
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 2194685
ClinVar RCV Id: RCV002647482
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11796320_11796321delinsAA , CM000663.2:g.11796320_11796321delinsAA GRCh38
NC_000001.10:g.11856377_11856378delinsAA , CM000663.1:g.11856377_11856378delinsAA GRCh37
NC_000001.9:g.11778964_11778965delinsAA NCBI36
NG_013351.1:g.14783_14784delinsTT , LRG_726:g.14783_14784delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000376486.3:c.665_666delinsTT ENSP00000365669.3:p.Ala222Val
ENST00000376585.6:c.788_789delinsTT ENSP00000365770.1:p.Ala263Val
ENST00000376590.9:c.665_666delinsTT MANE Select ENSP00000365775.3:p.Ala222Val
ENST00000376592.6:c.665_666delinsTT ENSP00000365777.1:p.Ala222Val
ENST00000423400.7:c.785_786delinsTT ENSP00000398908.3:p.Ala262Val
ENST00000641407.1:c.665_666delinsTT ENSP00000493098.1:p.Ala222Val
ENST00000641446.1:c.665_666delinsTT ENSP00000493262.1:p.Ala222Val
ENST00000641721.1:n.644-973_644-972delinsTT
ENST00000641747.1:c.*177_*178delinsTT ENSP00000493116.1:n.*177_*178delinsTT
ENST00000641759.1:n.800_801delinsTT
ENST00000641805.1:n.948_949delinsTT
ENST00000641820.1:c.-71_-70delinsTT ENSP00000492937.1:n.-71_-70delinsTT
ENST00000376583.7:c.788_789delinsTT ENSP00000365767.3:p.Ala263Val
ENST00000376585.5:c.788_789delinsTT ENSP00000365770.1:p.Ala263Val
ENST00000376590.7:c.665_666delinsTT ENSP00000365775.3:p.Ala222Val
ENST00000376592.5:c.665_666delinsTT ENSP00000365777.1:p.Ala222Val
NM_005957.4:c.665_666delinsTT , LRG_726t1:c.665_666delinsTT NP_005948.3:p.Ala222Val
XM_005263458.2:c.788_789delinsTT XP_005263515.1:p.Ala263Val
XM_005263460.3:c.665_666delinsTT XP_005263517.1:p.Ala222Val
XM_005263461.3:c.665_666delinsTT XP_005263518.1:p.Ala222Val
XM_005263462.3:c.665_666delinsTT XP_005263519.1:p.Ala222Val
XM_005263463.2:c.419_420delinsTT XP_005263520.1:p.Ala140Val
XM_011541495.1:c.785_786delinsTT XP_011539797.1:p.Ala262Val
XM_011541496.1:c.788_789delinsTT XP_011539798.1:p.Ala263Val
NM_001330358.1:c.788_789delinsTT NP_001317287.1:p.Ala263Val
XM_005263460.5:c.665_666delinsTT XP_005263517.1:p.Ala222Val
XM_005263462.4:c.665_666delinsTT XP_005263519.1:p.Ala222Val
XM_005263463.4:c.419_420delinsTT XP_005263520.1:p.Ala140Val
XM_011541495.3:c.785_786delinsTT XP_011539797.1:p.Ala262Val
XM_011541496.3:c.788_789delinsTT XP_011539798.1:p.Ala263Val
XM_017001328.2:c.788_789delinsTT XP_016856817.1:p.Ala263Val
XM_024447198.1:c.419_420delinsTT XP_024302966.1:p.Ala140Val
XR_002956640.1:n.1532_1533delinsTT
NM_005957.5:c.665_666delinsTT MANE Select NP_005948.3:p.Ala222Val
NM_001330358.2:c.788_789delinsTT NP_001317287.1:p.Ala263Val
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