Canonical Allele Identifier: CA1153792643

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791271A= , CM000663.2:g.11791271A=	GRCh38
NC_000001.10:g.11851328A= , CM000663.1:g.11851328A=	GRCh37
NC_000001.9:g.11773915A=	NCBI36
NG_013351.1:g.19833T= , LRG_726:g.19833T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1811T=	ENSP00000365770.1:p.Ile604=
ENST00000376590.9:c.1688T= MANE Select	ENSP00000365775.3:p.Ile563=
ENST00000376592.6:c.1688T=	ENSP00000365777.1:p.Ile563=
ENST00000423400.7:c.1808T=	ENSP00000398908.3:p.Ile603=
ENST00000641407.1:c.1688T=	ENSP00000493098.1:p.Ile563=
ENST00000641446.1:c.*147T=	ENSP00000493262.1:n.*147T=
ENST00000641747.1:c.*1200T=	ENSP00000493116.1:n.*1200T=
ENST00000641759.1:n.2057T=
ENST00000641805.1:n.2205T=
ENST00000641820.1:c.953T=	ENSP00000492937.1:p.Ile318=
ENST00000376583.7:c.1811T=	ENSP00000365767.3:p.Ile604=
ENST00000376585.5:c.1811T=	ENSP00000365770.1:p.Ile604=
ENST00000376590.7:c.1688T=	ENSP00000365775.3:p.Ile563=
ENST00000376592.5:c.1688T=	ENSP00000365777.1:p.Ile563=
NM_005957.4:c.1688T= , LRG_726t1:c.1688T=	NP_005948.3:p.Ile563=
XM_005263458.2:c.1811T=	XP_005263515.1:p.Ile604=
XM_005263460.3:c.1688T=	XP_005263517.1:p.Ile563=
XM_005263461.3:c.1688T=	XP_005263518.1:p.Ile563=
XM_005263462.3:c.1688T=	XP_005263519.1:p.Ile563=
XM_005263463.2:c.1442T=	XP_005263520.1:p.Ile481=
XM_011541495.1:c.1808T=	XP_011539797.1:p.Ile603=
XM_011541496.1:c.1811T=	XP_011539798.1:p.Ile604=
NM_001330358.1:c.1811T=	NP_001317287.1:p.Ile604=
XM_005263460.5:c.1688T=	XP_005263517.1:p.Ile563=
XM_005263462.4:c.1688T=	XP_005263519.1:p.Ile563=
XM_005263463.4:c.1442T=	XP_005263520.1:p.Ile481=
XM_011541495.3:c.1808T=	XP_011539797.1:p.Ile603=
XM_011541496.3:c.1811T=	XP_011539798.1:p.Ile604=
XM_017001328.2:c.1811T=	XP_016856817.1:p.Ile604=
XM_024447198.1:c.1442T=	XP_024302966.1:p.Ile481=
XR_002956640.1:n.2789T=
NM_005957.5:c.1688T= MANE Select	NP_005948.3:p.Ile563=
NM_001330358.2:c.1811T=	NP_001317287.1:p.Ile604=