Canonical Allele Identifier: CA2580060904

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2194685
• ClinVar RCV Id: RCV002647482

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