Canonical Allele Identifier: CA338480073

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11855194T>G (hg19) ; chr1:g.11795137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795137T>G , CM000663.2:g.11795137T>G	GRCh38
NC_000001.10:g.11855194T>G , CM000663.1:g.11855194T>G	GRCh37
NC_000001.9:g.11777781T>G	NCBI36
NG_013351.1:g.15967A>C , LRG_726:g.15967A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1115A>C	ENSP00000365770.1:p.Glu372Ala
ENST00000376590.9:c.992A>C MANE Select	ENSP00000365775.3:p.Glu331Ala
ENST00000376592.6:c.992A>C	ENSP00000365777.1:p.Glu331Ala
ENST00000423400.7:c.1112A>C	ENSP00000398908.3:p.Glu371Ala
ENST00000641407.1:c.992A>C	ENSP00000493098.1:p.Glu331Ala
ENST00000641446.1:c.992A>C	ENSP00000493262.1:p.Glu331Ala
ENST00000641721.1:n.855A>C
ENST00000641747.1:c.*504A>C	ENSP00000493116.1:n.*504A>C
ENST00000641759.1:n.1127A>C
ENST00000641805.1:n.1275A>C
ENST00000641820.1:c.257A>C	ENSP00000492937.1:p.Glu86Ala
ENST00000376583.7:c.1115A>C	ENSP00000365767.3:p.Glu372Ala
ENST00000376585.5:c.1115A>C	ENSP00000365770.1:p.Glu372Ala
ENST00000376590.7:c.992A>C	ENSP00000365775.3:p.Glu331Ala
ENST00000376592.5:c.992A>C	ENSP00000365777.1:p.Glu331Ala
NM_005957.4:c.992A>C , LRG_726t1:c.992A>C	NP_005948.3:p.Glu331Ala
XM_005263458.2:c.1115A>C	XP_005263515.1:p.Glu372Ala
XM_005263460.3:c.992A>C	XP_005263517.1:p.Glu331Ala
XM_005263461.3:c.992A>C	XP_005263518.1:p.Glu331Ala
XM_005263462.3:c.992A>C	XP_005263519.1:p.Glu331Ala
XM_005263463.2:c.746A>C	XP_005263520.1:p.Glu249Ala
XM_011541495.1:c.1112A>C	XP_011539797.1:p.Glu371Ala
XM_011541496.1:c.1115A>C	XP_011539798.1:p.Glu372Ala
NM_001330358.1:c.1115A>C	NP_001317287.1:p.Glu372Ala
XM_005263460.5:c.992A>C	XP_005263517.1:p.Glu331Ala
XM_005263462.4:c.992A>C	XP_005263519.1:p.Glu331Ala
XM_005263463.4:c.746A>C	XP_005263520.1:p.Glu249Ala
XM_011541495.3:c.1112A>C	XP_011539797.1:p.Glu371Ala
XM_011541496.3:c.1115A>C	XP_011539798.1:p.Glu372Ala
XM_017001328.2:c.1115A>C	XP_016856817.1:p.Glu372Ala
XM_024447198.1:c.746A>C	XP_024302966.1:p.Glu249Ala
XR_002956640.1:n.1859A>C
NM_005957.5:c.992A>C MANE Select	NP_005948.3:p.Glu331Ala
NM_001330358.2:c.1115A>C	NP_001317287.1:p.Glu372Ala