Canonical Allele Identifier: CA595517

Gene: MTHFR

Linked Data

• dbSNP Id: rs761492399
• ExAC: 1:11855313 A / G
• gnomAD v2: 1-11855313-A-G
• MyVariant Identifiers: chr1:g.11855313A>G (hg19) ; chr1:g.11795256A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795256A>G , CM000663.2:g.11795256A>G	GRCh38
NC_000001.10:g.11855313A>G , CM000663.1:g.11855313A>G	GRCh37
NC_000001.9:g.11777900A>G	NCBI36
NG_013351.1:g.15848T>C , LRG_726:g.15848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.996T>C	ENSP00000365770.1:p.Asp332=
ENST00000376590.9:c.873T>C MANE Select	ENSP00000365775.3:p.Asp291=
ENST00000376592.6:c.873T>C	ENSP00000365777.1:p.Asp291=
ENST00000423400.7:c.993T>C	ENSP00000398908.3:p.Asp331=
ENST00000641407.1:c.873T>C	ENSP00000493098.1:p.Asp291=
ENST00000641446.1:c.873T>C	ENSP00000493262.1:p.Asp291=
ENST00000641721.1:n.736T>C
ENST00000641747.1:c.*385T>C	ENSP00000493116.1:n.*385T>C
ENST00000641759.1:n.1008T>C
ENST00000641805.1:n.1156T>C
ENST00000641820.1:c.138T>C	ENSP00000492937.1:p.Asp46=
ENST00000376583.7:c.996T>C	ENSP00000365767.3:p.Asp332=
ENST00000376585.5:c.996T>C	ENSP00000365770.1:p.Asp332=
ENST00000376590.7:c.873T>C	ENSP00000365775.3:p.Asp291=
ENST00000376592.5:c.873T>C	ENSP00000365777.1:p.Asp291=
NM_005957.4:c.873T>C , LRG_726t1:c.873T>C	NP_005948.3:p.Asp291=
XM_005263458.2:c.996T>C	XP_005263515.1:p.Asp332=
XM_005263460.3:c.873T>C	XP_005263517.1:p.Asp291=
XM_005263461.3:c.873T>C	XP_005263518.1:p.Asp291=
XM_005263462.3:c.873T>C	XP_005263519.1:p.Asp291=
XM_005263463.2:c.627T>C	XP_005263520.1:p.Asp209=
XM_011541495.1:c.993T>C	XP_011539797.1:p.Asp331=
XM_011541496.1:c.996T>C	XP_011539798.1:p.Asp332=
NM_001330358.1:c.996T>C	NP_001317287.1:p.Asp332=
XM_005263460.5:c.873T>C	XP_005263517.1:p.Asp291=
XM_005263462.4:c.873T>C	XP_005263519.1:p.Asp291=
XM_005263463.4:c.627T>C	XP_005263520.1:p.Asp209=
XM_011541495.3:c.993T>C	XP_011539797.1:p.Asp331=
XM_011541496.3:c.996T>C	XP_011539798.1:p.Asp332=
XM_017001328.2:c.996T>C	XP_016856817.1:p.Asp332=
XM_024447198.1:c.627T>C	XP_024302966.1:p.Asp209=
XR_002956640.1:n.1740T>C
NM_005957.5:c.873T>C MANE Select	NP_005948.3:p.Asp291=
NM_001330358.2:c.996T>C	NP_001317287.1:p.Asp332=