Canonical Allele Identifier: CA1142389711

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796319C= , CM000663.2:g.11796319C=	GRCh38
NC_000001.10:g.11856376C= , CM000663.1:g.11856376C=	GRCh37
NC_000001.9:g.11778963C=	NCBI36
NG_013351.1:g.14785G= , LRG_726:g.14785G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.667G=	ENSP00000365669.3:p.Asp223=
ENST00000376585.6:c.790G=	ENSP00000365770.1:p.Asp264=
ENST00000376590.9:c.667G= MANE Select	ENSP00000365775.3:p.Asp223=
ENST00000376592.6:c.667G=	ENSP00000365777.1:p.Asp223=
ENST00000423400.7:c.787G=	ENSP00000398908.3:p.Asp263=
ENST00000641407.1:c.667G=	ENSP00000493098.1:p.Asp223=
ENST00000641446.1:c.667G=	ENSP00000493262.1:p.Asp223=
ENST00000641721.1:n.644-971G=
ENST00000641747.1:c.*179G=	ENSP00000493116.1:n.*179G=
ENST00000641759.1:n.802G=
ENST00000641805.1:n.950G=
ENST00000641820.1:c.-69G=	ENSP00000492937.1:n.-69G=
ENST00000376583.7:c.790G=	ENSP00000365767.3:p.Asp264=
ENST00000376585.5:c.790G=	ENSP00000365770.1:p.Asp264=
ENST00000376590.7:c.667G=	ENSP00000365775.3:p.Asp223=
ENST00000376592.5:c.667G=	ENSP00000365777.1:p.Asp223=
NM_005957.4:c.667G= , LRG_726t1:c.667G=	NP_005948.3:p.Asp223=
XM_005263458.2:c.790G=	XP_005263515.1:p.Asp264=
XM_005263460.3:c.667G=	XP_005263517.1:p.Asp223=
XM_005263461.3:c.667G=	XP_005263518.1:p.Asp223=
XM_005263462.3:c.667G=	XP_005263519.1:p.Asp223=
XM_005263463.2:c.421G=	XP_005263520.1:p.Asp141=
XM_011541495.1:c.787G=	XP_011539797.1:p.Asp263=
XM_011541496.1:c.790G=	XP_011539798.1:p.Asp264=
NM_001330358.1:c.790G=	NP_001317287.1:p.Asp264=
XM_005263460.5:c.667G=	XP_005263517.1:p.Asp223=
XM_005263462.4:c.667G=	XP_005263519.1:p.Asp223=
XM_005263463.4:c.421G=	XP_005263520.1:p.Asp141=
XM_011541495.3:c.787G=	XP_011539797.1:p.Asp263=
XM_011541496.3:c.790G=	XP_011539798.1:p.Asp264=
XM_017001328.2:c.790G=	XP_016856817.1:p.Asp264=
XM_024447198.1:c.421G=	XP_024302966.1:p.Asp141=
XR_002956640.1:n.1534G=
NM_005957.5:c.667G= MANE Select	NP_005948.3:p.Asp223=
NM_001330358.2:c.790G=	NP_001317287.1:p.Asp264=