Canonical Allele Identifier: CA1143525326

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801254T= , CM000663.2:g.11801254T=	GRCh38
NC_000001.10:g.11861311T= , CM000663.1:g.11861311T=	GRCh37
NC_000001.9:g.11783898T=	NCBI36
NG_008766.1:g.105T=
NG_013351.1:g.9850A= , LRG_726:g.9850A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.382A=	ENSP00000365669.3:p.Met128=
ENST00000376585.6:c.505A=	ENSP00000365770.1:p.Met169=
ENST00000376590.9:c.382A= MANE Select	ENSP00000365775.3:p.Met128=
ENST00000376592.6:c.382A=	ENSP00000365777.1:p.Met128=
ENST00000423400.7:c.502A=	ENSP00000398908.3:p.Met168=
ENST00000641407.1:c.382A=	ENSP00000493098.1:p.Met128=
ENST00000641437.1:n.514A=
ENST00000641446.1:c.382A=	ENSP00000493262.1:p.Met128=
ENST00000641721.1:n.439A=
ENST00000641747.1:c.237-932A=	ENSP00000493116.1:n.237-932A=
ENST00000641759.1:n.517A=
ENST00000641805.1:n.665A=
ENST00000641909.1:n.792A=
ENST00000376583.7:c.505A=	ENSP00000365767.3:p.Met169=
ENST00000376585.5:c.505A=	ENSP00000365770.1:p.Met169=
ENST00000376590.7:c.382A=	ENSP00000365775.3:p.Met128=
ENST00000376592.5:c.382A=	ENSP00000365777.1:p.Met128=
ENST00000418034.1:c.382A=	ENSP00000405082.1:p.Met128=
NM_005957.4:c.382A= , LRG_726t1:c.382A=	NP_005948.3:p.Met128=
XM_005263458.2:c.505A=	XP_005263515.1:p.Met169=
XM_005263460.3:c.382A=	XP_005263517.1:p.Met128=
XM_005263461.3:c.382A=	XP_005263518.1:p.Met128=
XM_005263462.3:c.382A=	XP_005263519.1:p.Met128=
XM_005263463.2:c.136A=	XP_005263520.1:p.Met46=
XM_011541495.1:c.502A=	XP_011539797.1:p.Met168=
XM_011541496.1:c.505A=	XP_011539798.1:p.Met169=
NM_001330358.1:c.505A=	NP_001317287.1:p.Met169=
XM_005263460.5:c.382A=	XP_005263517.1:p.Met128=
XM_005263462.4:c.382A=	XP_005263519.1:p.Met128=
XM_005263463.4:c.136A=	XP_005263520.1:p.Met46=
XM_011541495.3:c.502A=	XP_011539797.1:p.Met168=
XM_011541496.3:c.505A=	XP_011539798.1:p.Met169=
XM_017001328.2:c.505A=	XP_016856817.1:p.Met169=
XM_024447198.1:c.136A=	XP_024302966.1:p.Met46=
XR_002956640.1:n.1249A=
NM_005957.5:c.382A= MANE Select	NP_005948.3:p.Met128=
NM_001330358.2:c.505A=	NP_001317287.1:p.Met169=