Canonical Allele Identifier: CA595494

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 975600
• ClinVar RCV Id: RCV001252318 ; RCV001786456 ; RCV003469485
• dbSNP Id: rs371085894
• ExAC: 1:11855213 G / A
• gnomAD v2: 1-11855213-G-A
• gnomAD v3: 1-11795156-G-A
• gnomAD v4: 1-11795156-G-A
• MyVariant Identifiers: chr1:g.11855213G>A (hg19) ; chr1:g.11795156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795156G>A , CM000663.2:g.11795156G>A	GRCh38
NC_000001.10:g.11855213G>A , CM000663.1:g.11855213G>A	GRCh37
NC_000001.9:g.11777800G>A	NCBI36
NG_013351.1:g.15948C>T , LRG_726:g.15948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1096C>T	ENSP00000365770.1:p.Arg366Cys
ENST00000376590.9:c.973C>T MANE Select	ENSP00000365775.3:p.Arg325Cys
ENST00000376592.6:c.973C>T	ENSP00000365777.1:p.Arg325Cys
ENST00000423400.7:c.1093C>T	ENSP00000398908.3:p.Arg365Cys
ENST00000641407.1:c.973C>T	ENSP00000493098.1:p.Arg325Cys
ENST00000641446.1:c.973C>T	ENSP00000493262.1:p.Arg325Cys
ENST00000641721.1:n.836C>T
ENST00000641747.1:c.*485C>T	ENSP00000493116.1:n.*485C>T
ENST00000641759.1:n.1108C>T
ENST00000641805.1:n.1256C>T
ENST00000641820.1:c.238C>T	ENSP00000492937.1:p.Arg80Cys
ENST00000376583.7:c.1096C>T	ENSP00000365767.3:p.Arg366Cys
ENST00000376585.5:c.1096C>T	ENSP00000365770.1:p.Arg366Cys
ENST00000376590.7:c.973C>T	ENSP00000365775.3:p.Arg325Cys
ENST00000376592.5:c.973C>T	ENSP00000365777.1:p.Arg325Cys
NM_005957.4:c.973C>T , LRG_726t1:c.973C>T	NP_005948.3:p.Arg325Cys
XM_005263458.2:c.1096C>T	XP_005263515.1:p.Arg366Cys
XM_005263460.3:c.973C>T	XP_005263517.1:p.Arg325Cys
XM_005263461.3:c.973C>T	XP_005263518.1:p.Arg325Cys
XM_005263462.3:c.973C>T	XP_005263519.1:p.Arg325Cys
XM_005263463.2:c.727C>T	XP_005263520.1:p.Arg243Cys
XM_011541495.1:c.1093C>T	XP_011539797.1:p.Arg365Cys
XM_011541496.1:c.1096C>T	XP_011539798.1:p.Arg366Cys
NM_001330358.1:c.1096C>T	NP_001317287.1:p.Arg366Cys
XM_005263460.5:c.973C>T	XP_005263517.1:p.Arg325Cys
XM_005263462.4:c.973C>T	XP_005263519.1:p.Arg325Cys
XM_005263463.4:c.727C>T	XP_005263520.1:p.Arg243Cys
XM_011541495.3:c.1093C>T	XP_011539797.1:p.Arg365Cys
XM_011541496.3:c.1096C>T	XP_011539798.1:p.Arg366Cys
XM_017001328.2:c.1096C>T	XP_016856817.1:p.Arg366Cys
XM_024447198.1:c.727C>T	XP_024302966.1:p.Arg243Cys
XR_002956640.1:n.1840C>T
NM_005957.5:c.973C>T MANE Select	NP_005948.3:p.Arg325Cys
NM_001330358.2:c.1096C>T	NP_001317287.1:p.Arg366Cys