Canonical Allele Identifier: CA595557

Gene: MTHFR

Linked Data

• dbSNP Id: rs775829502
• ExAC: 1:11856280 C / T
• gnomAD v2: 1-11856280-C-T
• gnomAD v3: 1-11796223-C-T
• gnomAD v4: 1-11796223-C-T
• MyVariant Identifiers: chr1:g.11856280C>T (hg19) ; chr1:g.11796223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796223C>T , CM000663.2:g.11796223C>T	GRCh38
NC_000001.10:g.11856280C>T , CM000663.1:g.11856280C>T	GRCh37
NC_000001.9:g.11778867C>T	NCBI36
NG_013351.1:g.14881G>A , LRG_726:g.14881G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.886G>A	ENSP00000365770.1:p.Gly296Arg
ENST00000376590.9:c.763G>A MANE Select	ENSP00000365775.3:p.Gly255Arg
ENST00000376592.6:c.763G>A	ENSP00000365777.1:p.Gly255Arg
ENST00000423400.7:c.883G>A	ENSP00000398908.3:p.Gly295Arg
ENST00000641407.1:c.763G>A	ENSP00000493098.1:p.Gly255Arg
ENST00000641446.1:c.763G>A	ENSP00000493262.1:p.Gly255Arg
ENST00000641721.1:n.644-875G>A
ENST00000641747.1:c.*275G>A	ENSP00000493116.1:n.*275G>A
ENST00000641759.1:n.898G>A
ENST00000641805.1:n.1046G>A
ENST00000641820.1:c.28G>A	ENSP00000492937.1:p.Gly10Arg
ENST00000376583.7:c.886G>A	ENSP00000365767.3:p.Gly296Arg
ENST00000376585.5:c.886G>A	ENSP00000365770.1:p.Gly296Arg
ENST00000376590.7:c.763G>A	ENSP00000365775.3:p.Gly255Arg
ENST00000376592.5:c.763G>A	ENSP00000365777.1:p.Gly255Arg
NM_005957.4:c.763G>A , LRG_726t1:c.763G>A	NP_005948.3:p.Gly255Arg
XM_005263458.2:c.886G>A	XP_005263515.1:p.Gly296Arg
XM_005263460.3:c.763G>A	XP_005263517.1:p.Gly255Arg
XM_005263461.3:c.763G>A	XP_005263518.1:p.Gly255Arg
XM_005263462.3:c.763G>A	XP_005263519.1:p.Gly255Arg
XM_005263463.2:c.517G>A	XP_005263520.1:p.Gly173Arg
XM_011541495.1:c.883G>A	XP_011539797.1:p.Gly295Arg
XM_011541496.1:c.886G>A	XP_011539798.1:p.Gly296Arg
NM_001330358.1:c.886G>A	NP_001317287.1:p.Gly296Arg
XM_005263460.5:c.763G>A	XP_005263517.1:p.Gly255Arg
XM_005263462.4:c.763G>A	XP_005263519.1:p.Gly255Arg
XM_005263463.4:c.517G>A	XP_005263520.1:p.Gly173Arg
XM_011541495.3:c.883G>A	XP_011539797.1:p.Gly295Arg
XM_011541496.3:c.886G>A	XP_011539798.1:p.Gly296Arg
XM_017001328.2:c.886G>A	XP_016856817.1:p.Gly296Arg
XM_024447198.1:c.517G>A	XP_024302966.1:p.Gly173Arg
XR_002956640.1:n.1630G>A
NM_005957.5:c.763G>A MANE Select	NP_005948.3:p.Gly255Arg
NM_001330358.2:c.886G>A	NP_001317287.1:p.Gly296Arg