Canonical Allele Identifier: CA1153801073

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795177G= , CM000663.2:g.11795177G=	GRCh38
NC_000001.10:g.11855234G= , CM000663.1:g.11855234G=	GRCh37
NC_000001.9:g.11777821G=	NCBI36
NG_013351.1:g.15927C= , LRG_726:g.15927C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1075C=	ENSP00000365770.1:p.Leu359=
ENST00000376590.9:c.952C= MANE Select	ENSP00000365775.3:p.Leu318=
ENST00000376592.6:c.952C=	ENSP00000365777.1:p.Leu318=
ENST00000423400.7:c.1072C=	ENSP00000398908.3:p.Leu358=
ENST00000641407.1:c.952C=	ENSP00000493098.1:p.Leu318=
ENST00000641446.1:c.952C=	ENSP00000493262.1:p.Leu318=
ENST00000641721.1:n.815C=
ENST00000641747.1:c.*464C=	ENSP00000493116.1:n.*464C=
ENST00000641759.1:n.1087C=
ENST00000641805.1:n.1235C=
ENST00000641820.1:c.217C=	ENSP00000492937.1:p.Leu73=
ENST00000376583.7:c.1075C=	ENSP00000365767.3:p.Leu359=
ENST00000376585.5:c.1075C=	ENSP00000365770.1:p.Leu359=
ENST00000376590.7:c.952C=	ENSP00000365775.3:p.Leu318=
ENST00000376592.5:c.952C=	ENSP00000365777.1:p.Leu318=
NM_005957.4:c.952C= , LRG_726t1:c.952C=	NP_005948.3:p.Leu318=
XM_005263458.2:c.1075C=	XP_005263515.1:p.Leu359=
XM_005263460.3:c.952C=	XP_005263517.1:p.Leu318=
XM_005263461.3:c.952C=	XP_005263518.1:p.Leu318=
XM_005263462.3:c.952C=	XP_005263519.1:p.Leu318=
XM_005263463.2:c.706C=	XP_005263520.1:p.Leu236=
XM_011541495.1:c.1072C=	XP_011539797.1:p.Leu358=
XM_011541496.1:c.1075C=	XP_011539798.1:p.Leu359=
NM_001330358.1:c.1075C=	NP_001317287.1:p.Leu359=
XM_005263460.5:c.952C=	XP_005263517.1:p.Leu318=
XM_005263462.4:c.952C=	XP_005263519.1:p.Leu318=
XM_005263463.4:c.706C=	XP_005263520.1:p.Leu236=
XM_011541495.3:c.1072C=	XP_011539797.1:p.Leu358=
XM_011541496.3:c.1075C=	XP_011539798.1:p.Leu359=
XM_017001328.2:c.1075C=	XP_016856817.1:p.Leu359=
XM_024447198.1:c.706C=	XP_024302966.1:p.Leu236=
XR_002956640.1:n.1819C=
NM_005957.5:c.952C= MANE Select	NP_005948.3:p.Leu318=
NM_001330358.2:c.1075C=	NP_001317287.1:p.Leu359=