Canonical Allele Identifier: CA1144114724

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803010C= , CM000663.2:g.11803010C=	GRCh38
NC_000001.10:g.11863067C= , CM000663.1:g.11863067C=	GRCh37
NC_000001.9:g.11785654C=	NCBI36
NG_008766.1:g.1861C=
NG_013351.1:g.8094G= , LRG_726:g.8094G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.107G=	ENSP00000365669.3:p.Gly36=
ENST00000376585.6:c.230G=	ENSP00000365770.1:p.Gly77=
ENST00000376590.9:c.107G= MANE Select	ENSP00000365775.3:p.Gly36=
ENST00000376592.6:c.107G=	ENSP00000365777.1:p.Gly36=
ENST00000423400.7:c.227G=	ENSP00000398908.3:p.Gly76=
ENST00000431243.6:n.888G=
ENST00000641407.1:c.107G=	ENSP00000493098.1:p.Gly36=
ENST00000641437.1:n.239G=
ENST00000641446.1:c.107G=	ENSP00000493262.1:p.Gly36=
ENST00000641721.1:n.164G=
ENST00000641747.1:c.107G=	ENSP00000493116.1:p.Gly36=
ENST00000641759.1:n.242G=
ENST00000641805.1:n.390G=
ENST00000641909.1:n.517G=
ENST00000642002.1:n.336G=
ENST00000376583.7:c.230G=	ENSP00000365767.3:p.Gly77=
ENST00000376585.5:c.230G=	ENSP00000365770.1:p.Gly77=
ENST00000376590.7:c.107G=	ENSP00000365775.3:p.Gly36=
ENST00000376592.5:c.107G=	ENSP00000365777.1:p.Gly36=
ENST00000418034.1:c.107G=	ENSP00000405082.1:p.Gly36=
NM_005957.4:c.107G= , LRG_726t1:c.107G=	NP_005948.3:p.Gly36=
XM_005263458.2:c.230G=	XP_005263515.1:p.Gly77=
XM_005263460.3:c.107G=	XP_005263517.1:p.Gly36=
XM_005263461.3:c.107G=	XP_005263518.1:p.Gly36=
XM_005263462.3:c.107G=	XP_005263519.1:p.Gly36=
XM_005263463.2:c.-157G=	XP_005263520.1:n.-157G=
XM_011541495.1:c.227G=	XP_011539797.1:p.Gly76=
XM_011541496.1:c.230G=	XP_011539798.1:p.Gly77=
NM_001330358.1:c.230G=	NP_001317287.1:p.Gly77=
XM_005263460.5:c.107G=	XP_005263517.1:p.Gly36=
XM_005263462.4:c.107G=	XP_005263519.1:p.Gly36=
XM_005263463.4:c.-157G=	XP_005263520.1:n.-157G=
XM_011541495.3:c.227G=	XP_011539797.1:p.Gly76=
XM_011541496.3:c.230G=	XP_011539798.1:p.Gly77=
XM_017001328.2:c.230G=	XP_016856817.1:p.Gly77=
XM_024447198.1:c.-157G=	XP_024302966.1:n.-157G=
XR_002956640.1:n.974G=
NM_005957.5:c.107G= MANE Select	NP_005948.3:p.Gly36=
NM_001330358.2:c.230G=	NP_001317287.1:p.Gly77=