Canonical Allele Identifier: CA1143616770

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795261T= , CM000663.2:g.11795261T=	GRCh38
NC_000001.10:g.11855318T= , CM000663.1:g.11855318T=	GRCh37
NC_000001.9:g.11777905T=	NCBI36
NG_013351.1:g.15843A= , LRG_726:g.15843A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.991A=	ENSP00000365770.1:p.Asn331=
ENST00000376590.9:c.868A= MANE Select	ENSP00000365775.3:p.Asn290=
ENST00000376592.6:c.868A=	ENSP00000365777.1:p.Asn290=
ENST00000423400.7:c.988A=	ENSP00000398908.3:p.Asn330=
ENST00000641407.1:c.868A=	ENSP00000493098.1:p.Asn290=
ENST00000641446.1:c.868A=	ENSP00000493262.1:p.Asn290=
ENST00000641721.1:n.731A=
ENST00000641747.1:c.*380A=	ENSP00000493116.1:n.*380A=
ENST00000641759.1:n.1003A=
ENST00000641805.1:n.1151A=
ENST00000641820.1:c.133A=	ENSP00000492937.1:p.Asn45=
ENST00000376583.7:c.991A=	ENSP00000365767.3:p.Asn331=
ENST00000376585.5:c.991A=	ENSP00000365770.1:p.Asn331=
ENST00000376590.7:c.868A=	ENSP00000365775.3:p.Asn290=
ENST00000376592.5:c.868A=	ENSP00000365777.1:p.Asn290=
NM_005957.4:c.868A= , LRG_726t1:c.868A=	NP_005948.3:p.Asn290=
XM_005263458.2:c.991A=	XP_005263515.1:p.Asn331=
XM_005263460.3:c.868A=	XP_005263517.1:p.Asn290=
XM_005263461.3:c.868A=	XP_005263518.1:p.Asn290=
XM_005263462.3:c.868A=	XP_005263519.1:p.Asn290=
XM_005263463.2:c.622A=	XP_005263520.1:p.Asn208=
XM_011541495.1:c.988A=	XP_011539797.1:p.Asn330=
XM_011541496.1:c.991A=	XP_011539798.1:p.Asn331=
NM_001330358.1:c.991A=	NP_001317287.1:p.Asn331=
XM_005263460.5:c.868A=	XP_005263517.1:p.Asn290=
XM_005263462.4:c.868A=	XP_005263519.1:p.Asn290=
XM_005263463.4:c.622A=	XP_005263520.1:p.Asn208=
XM_011541495.3:c.988A=	XP_011539797.1:p.Asn330=
XM_011541496.3:c.991A=	XP_011539798.1:p.Asn331=
XM_017001328.2:c.991A=	XP_016856817.1:p.Asn331=
XM_024447198.1:c.622A=	XP_024302966.1:p.Asn208=
XR_002956640.1:n.1735A=
NM_005957.5:c.868A= MANE Select	NP_005948.3:p.Asn290=
NM_001330358.2:c.991A=	NP_001317287.1:p.Asn331=