Canonical Allele Identifier: CA1143718494

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790765T= , CM000663.2:g.11790765T=	GRCh38
NC_000001.10:g.11850822T= , CM000663.1:g.11850822T=	GRCh37
NC_000001.9:g.11773409T=	NCBI36
NG_013351.1:g.20339A= , LRG_726:g.20339A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.2009A=	ENSP00000365770.1:p.Asp670=
ENST00000376590.9:c.1886A= MANE Select	ENSP00000365775.3:p.Asp629=
ENST00000376592.6:c.1886A=	ENSP00000365777.1:p.Asp629=
ENST00000423400.7:c.2006A=	ENSP00000398908.3:p.Asp669=
ENST00000641407.1:c.1753-49A=	ENSP00000493098.1:n.1753-49A=
ENST00000641446.1:c.*345A=	ENSP00000493262.1:n.*345A=
ENST00000641747.1:c.*1398A=	ENSP00000493116.1:n.*1398A=
ENST00000641759.1:n.2255A=
ENST00000641805.1:n.2270-49A=
ENST00000641820.1:c.1151A=	ENSP00000492937.1:p.Asp384=
ENST00000376583.7:c.2009A=	ENSP00000365767.3:p.Asp670=
ENST00000376585.5:c.2009A=	ENSP00000365770.1:p.Asp670=
ENST00000376590.7:c.1886A=	ENSP00000365775.3:p.Asp629=
ENST00000376592.5:c.1886A=	ENSP00000365777.1:p.Asp629=
NM_005957.4:c.1886A= , LRG_726t1:c.1886A=	NP_005948.3:p.Asp629=
XM_005263458.2:c.2009A=	XP_005263515.1:p.Asp670=
XM_005263460.3:c.1886A=	XP_005263517.1:p.Asp629=
XM_005263461.3:c.1886A=	XP_005263518.1:p.Asp629=
XM_005263462.3:c.1886A=	XP_005263519.1:p.Asp629=
XM_005263463.2:c.1640A=	XP_005263520.1:p.Asp547=
XM_011541495.1:c.2006A=	XP_011539797.1:p.Asp669=
XM_011541496.1:c.1876-49A=	XP_011539798.1:n.1876-49A=
NM_001330358.1:c.2009A=	NP_001317287.1:p.Asp670=
XM_005263460.5:c.1886A=	XP_005263517.1:p.Asp629=
XM_005263462.4:c.1886A=	XP_005263519.1:p.Asp629=
XM_005263463.4:c.1640A=	XP_005263520.1:p.Asp547=
XM_011541495.3:c.2006A=	XP_011539797.1:p.Asp669=
XM_011541496.3:c.1876-49A=	XP_011539798.1:n.1876-49A=
XM_017001328.2:c.1876-17A=	XP_016856817.1:n.1876-17A=
XM_024447198.1:c.1640A=	XP_024302966.1:p.Asp547=
XR_002956640.1:n.2854-49A=
NM_005957.5:c.1886A= MANE Select	NP_005948.3:p.Asp629=
NM_001330358.2:c.2009A=	NP_001317287.1:p.Asp670=