Canonical Allele Identifier: CA1153790764

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790657A= , CM000663.2:g.11790657A=	GRCh38
NC_000001.10:g.11850714A= , CM000663.1:g.11850714A=	GRCh37
NC_000001.9:g.11773301A=	NCBI36
NG_013351.1:g.20447T= , LRG_726:g.20447T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*23T=	ENSP00000365770.1:n.*23T=
ENST00000376590.9:c.*23T= MANE Select	ENSP00000365775.3:n.*23T=
ENST00000376592.6:c.*23T=	ENSP00000365777.1:n.*23T=
ENST00000423400.7:c.*23T=	ENSP00000398908.3:n.*23T=
ENST00000641407.1:c.1812T=	ENSP00000493098.1:p.Arg604=
ENST00000641446.1:c.*453T=	ENSP00000493262.1:n.*453T=
ENST00000641747.1:c.*1506T=	ENSP00000493116.1:n.*1506T=
ENST00000641759.1:n.2363T=
ENST00000641805.1:n.2329T=
ENST00000641820.1:c.*23T=	ENSP00000492937.1:n.*23T=
ENST00000376583.7:c.2117T=	ENSP00000365767.3:n.2117T=
ENST00000376585.5:c.*23T=	ENSP00000365770.1:n.*23T=
ENST00000376590.7:c.*23T=	ENSP00000365775.3:n.*23T=
ENST00000376592.5:c.*23T=	ENSP00000365777.1:n.*23T=
NM_005957.4:c.*23T= , LRG_726t1:c.*23T=	NP_005948.3:n.*23T=
XM_005263458.2:c.*23T=	XP_005263515.1:n.*23T=
XM_005263460.3:c.*23T=	XP_005263517.1:n.*23T=
XM_005263461.3:c.*23T=	XP_005263518.1:n.*23T=
XM_005263462.3:c.*23T=	XP_005263519.1:n.*23T=
XM_005263463.2:c.*23T=	XP_005263520.1:n.*23T=
XM_011541495.1:c.*23T=	XP_011539797.1:n.*23T=
XM_011541496.1:c.1935T=	XP_011539798.1:p.Arg645=
NM_001330358.1:c.*23T=	NP_001317287.1:n.*23T=
XM_005263460.5:c.*23T=	XP_005263517.1:n.*23T=
XM_005263462.4:c.*23T=	XP_005263519.1:n.*23T=
XM_005263463.4:c.*23T=	XP_005263520.1:n.*23T=
XM_011541495.3:c.*23T=	XP_011539797.1:n.*23T=
XM_011541496.3:c.1935T=	XP_011539798.1:p.Arg645=
XM_017001328.2:c.*23T=	XP_016856817.1:n.*23T=
XM_024447198.1:c.*23T=	XP_024302966.1:n.*23T=
XR_002956640.1:n.2913T=
NM_005957.5:c.*23T= MANE Select	NP_005948.3:n.*23T=
NM_001330358.2:c.*23T=	NP_001317287.1:n.*23T=