Canonical Allele Identifier: CA2580060531

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2142804
• ClinVar RCV Id: RCV003051175

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790846_11790847delinsGA , CM000663.2:g.11790846_11790847delinsGA	GRCh38
NC_000001.10:g.11850903_11850904delinsGA , CM000663.1:g.11850903_11850904delinsGA	GRCh37
NC_000001.9:g.11773490_11773491delinsGA	NCBI36
NG_013351.1:g.20257_20258delinsTC , LRG_726:g.20257_20258delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1927_1928delinsTC	ENSP00000365770.1:p.Glu643Ser
ENST00000376590.9:c.1804_1805delinsTC MANE Select	ENSP00000365775.3:p.Glu602Ser
ENST00000376592.6:c.1804_1805delinsTC	ENSP00000365777.1:p.Glu602Ser
ENST00000423400.7:c.1924_1925delinsTC	ENSP00000398908.3:p.Glu642Ser
ENST00000641407.1:c.1753-131_1753-130delinsTC	ENSP00000493098.1:n.1753-131_1753-130deli...
ENST00000641446.1:c.*263_*264delinsTC	ENSP00000493262.1:n.*263_*264delinsTC
ENST00000641747.1:c.*1316_*1317delinsTC	ENSP00000493116.1:n.*1316_*1317delinsTC
ENST00000641759.1:n.2173_2174delinsTC
ENST00000641805.1:n.2270-131_2270-130delinsTC
ENST00000641820.1:c.1069_1070delinsTC	ENSP00000492937.1:p.Glu357Ser
ENST00000376583.7:c.1927_1928delinsTC	ENSP00000365767.3:p.Glu643Ser
ENST00000376585.5:c.1927_1928delinsTC	ENSP00000365770.1:p.Glu643Ser
ENST00000376590.7:c.1804_1805delinsTC	ENSP00000365775.3:p.Glu602Ser
ENST00000376592.5:c.1804_1805delinsTC	ENSP00000365777.1:p.Glu602Ser
NM_005957.4:c.1804_1805delinsTC , LRG_726t1:c.1804_1805delinsTC	NP_005948.3:p.Glu602Ser
XM_005263458.2:c.1927_1928delinsTC	XP_005263515.1:p.Glu643Ser
XM_005263460.3:c.1804_1805delinsTC	XP_005263517.1:p.Glu602Ser
XM_005263461.3:c.1804_1805delinsTC	XP_005263518.1:p.Glu602Ser
XM_005263462.3:c.1804_1805delinsTC	XP_005263519.1:p.Glu602Ser
XM_005263463.2:c.1558_1559delinsTC	XP_005263520.1:p.Glu520Ser
XM_011541495.1:c.1924_1925delinsTC	XP_011539797.1:p.Glu642Ser
XM_011541496.1:c.1876-131_1876-130delinsTC	XP_011539798.1:n.1876-131_1876-130delinsT...
NM_001330358.1:c.1927_1928delinsTC	NP_001317287.1:p.Glu643Ser
XM_005263460.5:c.1804_1805delinsTC	XP_005263517.1:p.Glu602Ser
XM_005263462.4:c.1804_1805delinsTC	XP_005263519.1:p.Glu602Ser
XM_005263463.4:c.1558_1559delinsTC	XP_005263520.1:p.Glu520Ser
XM_011541495.3:c.1924_1925delinsTC	XP_011539797.1:p.Glu642Ser
XM_011541496.3:c.1876-131_1876-130delinsTC	XP_011539798.1:n.1876-131_1876-130delinsT...
XM_017001328.2:c.1876-99_1876-98delinsTC	XP_016856817.1:n.1876-99_1876-98delinsTC
XM_024447198.1:c.1558_1559delinsTC	XP_024302966.1:p.Glu520Ser
XR_002956640.1:n.2854-131_2854-130delinsTC
NM_005957.5:c.1804_1805delinsTC MANE Select	NP_005948.3:p.Glu602Ser
NM_001330358.2:c.1927_1928delinsTC	NP_001317287.1:p.Glu643Ser