Canonical Allele Identifier: CA1142089804

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795232G= , CM000663.2:g.11795232G=	GRCh38
NC_000001.10:g.11855289G= , CM000663.1:g.11855289G=	GRCh37
NC_000001.9:g.11777876G=	NCBI36
NG_013351.1:g.15872C= , LRG_726:g.15872C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1020C=	ENSP00000365770.1:p.Ile340=
ENST00000376590.9:c.897C= MANE Select	ENSP00000365775.3:p.Ile299=
ENST00000376592.6:c.897C=	ENSP00000365777.1:p.Ile299=
ENST00000423400.7:c.1017C=	ENSP00000398908.3:p.Ile339=
ENST00000641407.1:c.897C=	ENSP00000493098.1:p.Ile299=
ENST00000641446.1:c.897C=	ENSP00000493262.1:p.Ile299=
ENST00000641721.1:n.760C=
ENST00000641747.1:c.*409C=	ENSP00000493116.1:n.*409C=
ENST00000641759.1:n.1032C=
ENST00000641805.1:n.1180C=
ENST00000641820.1:c.162C=	ENSP00000492937.1:p.Ile54=
ENST00000376583.7:c.1020C=	ENSP00000365767.3:p.Ile340=
ENST00000376585.5:c.1020C=	ENSP00000365770.1:p.Ile340=
ENST00000376590.7:c.897C=	ENSP00000365775.3:p.Ile299=
ENST00000376592.5:c.897C=	ENSP00000365777.1:p.Ile299=
NM_005957.4:c.897C= , LRG_726t1:c.897C=	NP_005948.3:p.Ile299=
XM_005263458.2:c.1020C=	XP_005263515.1:p.Ile340=
XM_005263460.3:c.897C=	XP_005263517.1:p.Ile299=
XM_005263461.3:c.897C=	XP_005263518.1:p.Ile299=
XM_005263462.3:c.897C=	XP_005263519.1:p.Ile299=
XM_005263463.2:c.651C=	XP_005263520.1:p.Ile217=
XM_011541495.1:c.1017C=	XP_011539797.1:p.Ile339=
XM_011541496.1:c.1020C=	XP_011539798.1:p.Ile340=
NM_001330358.1:c.1020C=	NP_001317287.1:p.Ile340=
XM_005263460.5:c.897C=	XP_005263517.1:p.Ile299=
XM_005263462.4:c.897C=	XP_005263519.1:p.Ile299=
XM_005263463.4:c.651C=	XP_005263520.1:p.Ile217=
XM_011541495.3:c.1017C=	XP_011539797.1:p.Ile339=
XM_011541496.3:c.1020C=	XP_011539798.1:p.Ile340=
XM_017001328.2:c.1020C=	XP_016856817.1:p.Ile340=
XM_024447198.1:c.651C=	XP_024302966.1:p.Ile217=
XR_002956640.1:n.1764C=
NM_005957.5:c.897C= MANE Select	NP_005948.3:p.Ile299=
NM_001330358.2:c.1020C=	NP_001317287.1:p.Ile340=