Canonical Allele Identifier: CA1153812645

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801210C= , CM000663.2:g.11801210C=	GRCh38
NC_000001.10:g.11861267C= , CM000663.1:g.11861267C=	GRCh37
NC_000001.9:g.11783854C=	NCBI36
NG_008766.1:g.61C=
NG_013351.1:g.9894G= , LRG_726:g.9894G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.426G=	ENSP00000365669.3:p.Leu142=
ENST00000376585.6:c.549G=	ENSP00000365770.1:p.Leu183=
ENST00000376590.9:c.426G= MANE Select	ENSP00000365775.3:p.Leu142=
ENST00000376592.6:c.426G=	ENSP00000365777.1:p.Leu142=
ENST00000423400.7:c.546G=	ENSP00000398908.3:p.Leu182=
ENST00000641407.1:c.426G=	ENSP00000493098.1:p.Leu142=
ENST00000641437.1:n.558G=
ENST00000641446.1:c.426G=	ENSP00000493262.1:p.Leu142=
ENST00000641721.1:n.483G=
ENST00000641747.1:c.237-888G=	ENSP00000493116.1:n.237-888G=
ENST00000641759.1:n.561G=
ENST00000641805.1:n.709G=
ENST00000641909.1:n.836G=
ENST00000376583.7:c.549G=	ENSP00000365767.3:p.Leu183=
ENST00000376585.5:c.549G=	ENSP00000365770.1:p.Leu183=
ENST00000376590.7:c.426G=	ENSP00000365775.3:p.Leu142=
ENST00000376592.5:c.426G=	ENSP00000365777.1:p.Leu142=
ENST00000418034.1:c.426G=	ENSP00000405082.1:p.Leu142=
NM_005957.4:c.426G= , LRG_726t1:c.426G=	NP_005948.3:p.Leu142=
XM_005263458.2:c.549G=	XP_005263515.1:p.Leu183=
XM_005263460.3:c.426G=	XP_005263517.1:p.Leu142=
XM_005263461.3:c.426G=	XP_005263518.1:p.Leu142=
XM_005263462.3:c.426G=	XP_005263519.1:p.Leu142=
XM_005263463.2:c.180G=	XP_005263520.1:p.Leu60=
XM_011541495.1:c.546G=	XP_011539797.1:p.Leu182=
XM_011541496.1:c.549G=	XP_011539798.1:p.Leu183=
NM_001330358.1:c.549G=	NP_001317287.1:p.Leu183=
XM_005263460.5:c.426G=	XP_005263517.1:p.Leu142=
XM_005263462.4:c.426G=	XP_005263519.1:p.Leu142=
XM_005263463.4:c.180G=	XP_005263520.1:p.Leu60=
XM_011541495.3:c.546G=	XP_011539797.1:p.Leu182=
XM_011541496.3:c.549G=	XP_011539798.1:p.Leu183=
XM_017001328.2:c.549G=	XP_016856817.1:p.Leu183=
XM_024447198.1:c.180G=	XP_024302966.1:p.Leu60=
XR_002956640.1:n.1293G=
NM_005957.5:c.426G= MANE Select	NP_005948.3:p.Leu142=
NM_001330358.2:c.549G=	NP_001317287.1:p.Leu183=