Canonical Allele Identifier: CA1153791336

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790844_11790847delinsACTC , CM000663.2:g.11790844_11790847delinsACTC	GRCh38
NC_000001.10:g.11850901_11850904delinsACTC , CM000663.1:g.11850901_11850904delinsACTC	GRCh37
NC_000001.9:g.11773488_11773491delinsACTC	NCBI36
NG_013351.1:g.20257_20260delinsGAGT , LRG_726:g.20257_20260delinsGAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1927_1930delinsGAGT	ENSP00000365770.1:p.Glu643=
ENST00000376590.9:c.1804_1807delinsGAGT MANE Select	ENSP00000365775.3:p.Glu602=
ENST00000376592.6:c.1804_1807delinsGAGT	ENSP00000365777.1:p.Glu602=
ENST00000423400.7:c.1924_1927delinsGAGT	ENSP00000398908.3:p.Glu642=
ENST00000641407.1:c.1753-131_1753-128delinsGAGT	ENSP00000493098.1:n.1753-131_1753-128deli...
ENST00000641446.1:c.*263_*266delinsGAGT	ENSP00000493262.1:n.*263_*266delinsGAGT
ENST00000641747.1:c.*1316_*1319delinsGAGT	ENSP00000493116.1:n.*1316_*1319delinsGAGT...
ENST00000641759.1:n.2173_2176delinsGAGT
ENST00000641805.1:n.2270-131_2270-128delinsGAGT
ENST00000641820.1:c.1069_1072delinsGAGT	ENSP00000492937.1:p.Glu357=
ENST00000376583.7:c.1927_1930delinsGAGT	ENSP00000365767.3:p.Glu643=
ENST00000376585.5:c.1927_1930delinsGAGT	ENSP00000365770.1:p.Glu643=
ENST00000376590.7:c.1804_1807delinsGAGT	ENSP00000365775.3:p.Glu602=
ENST00000376592.5:c.1804_1807delinsGAGT	ENSP00000365777.1:p.Glu602=
NM_005957.4:c.1804_1807delinsGAGT , LRG_726t1:c.1804_1807delinsGAGT	NP_005948.3:p.Glu602=
XM_005263458.2:c.1927_1930delinsGAGT	XP_005263515.1:p.Glu643=
XM_005263460.3:c.1804_1807delinsGAGT	XP_005263517.1:p.Glu602=
XM_005263461.3:c.1804_1807delinsGAGT	XP_005263518.1:p.Glu602=
XM_005263462.3:c.1804_1807delinsGAGT	XP_005263519.1:p.Glu602=
XM_005263463.2:c.1558_1561delinsGAGT	XP_005263520.1:p.Glu520=
XM_011541495.1:c.1924_1927delinsGAGT	XP_011539797.1:p.Glu642=
XM_011541496.1:c.1876-131_1876-128delinsGAGT	XP_011539798.1:n.1876-131_1876-128delinsG...
NM_001330358.1:c.1927_1930delinsGAGT	NP_001317287.1:p.Glu643=
XM_005263460.5:c.1804_1807delinsGAGT	XP_005263517.1:p.Glu602=
XM_005263462.4:c.1804_1807delinsGAGT	XP_005263519.1:p.Glu602=
XM_005263463.4:c.1558_1561delinsGAGT	XP_005263520.1:p.Glu520=
XM_011541495.3:c.1924_1927delinsGAGT	XP_011539797.1:p.Glu642=
XM_011541496.3:c.1876-131_1876-128delinsGAGT	XP_011539798.1:n.1876-131_1876-128delinsG...
XM_017001328.2:c.1876-99_1876-96delinsGAGT	XP_016856817.1:n.1876-99_1876-96delinsGAG...
XM_024447198.1:c.1558_1561delinsGAGT	XP_024302966.1:p.Glu520=
XR_002956640.1:n.2854-131_2854-128delinsGAGT
NM_005957.5:c.1804_1807delinsGAGT MANE Select	NP_005948.3:p.Glu602=
NM_001330358.2:c.1927_1930delinsGAGT	NP_001317287.1:p.Glu643=