Canonical Allele Identifier: CA595676

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1042820
• ClinVar RCV Id: RCV001346835
• dbSNP Id: rs45550133
• ExAC: 1:11861293 G / A
• gnomAD v2: 1-11861293-G-A
• gnomAD v3: 1-11801236-G-A
• gnomAD v4: 1-11801236-G-A
• COSMIC: COSM675065
• MyVariant Identifiers: chr1:g.11861293G>A (hg19) ; chr1:g.11801236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801236G>A , CM000663.2:g.11801236G>A	GRCh38
NC_000001.10:g.11861293G>A , CM000663.1:g.11861293G>A	GRCh37
NC_000001.9:g.11783880G>A	NCBI36
NG_008766.1:g.87G>A
NG_013351.1:g.9868C>T , LRG_726:g.9868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.400C>T	ENSP00000365669.3:p.Arg134Cys
ENST00000376585.6:c.523C>T	ENSP00000365770.1:p.Arg175Cys
ENST00000376590.9:c.400C>T MANE Select	ENSP00000365775.3:p.Arg134Cys
ENST00000376592.6:c.400C>T	ENSP00000365777.1:p.Arg134Cys
ENST00000423400.7:c.520C>T	ENSP00000398908.3:p.Arg174Cys
ENST00000641407.1:c.400C>T	ENSP00000493098.1:p.Arg134Cys
ENST00000641437.1:n.532C>T
ENST00000641446.1:c.400C>T	ENSP00000493262.1:p.Arg134Cys
ENST00000641721.1:n.457C>T
ENST00000641747.1:c.237-914C>T	ENSP00000493116.1:n.237-914C>T
ENST00000641759.1:n.535C>T
ENST00000641805.1:n.683C>T
ENST00000641909.1:n.810C>T
ENST00000376583.7:c.523C>T	ENSP00000365767.3:p.Arg175Cys
ENST00000376585.5:c.523C>T	ENSP00000365770.1:p.Arg175Cys
ENST00000376590.7:c.400C>T	ENSP00000365775.3:p.Arg134Cys
ENST00000376592.5:c.400C>T	ENSP00000365777.1:p.Arg134Cys
ENST00000418034.1:c.400C>T	ENSP00000405082.1:p.Arg134Cys
NM_005957.4:c.400C>T , LRG_726t1:c.400C>T	NP_005948.3:p.Arg134Cys
XM_005263458.2:c.523C>T	XP_005263515.1:p.Arg175Cys
XM_005263460.3:c.400C>T	XP_005263517.1:p.Arg134Cys
XM_005263461.3:c.400C>T	XP_005263518.1:p.Arg134Cys
XM_005263462.3:c.400C>T	XP_005263519.1:p.Arg134Cys
XM_005263463.2:c.154C>T	XP_005263520.1:p.Arg52Cys
XM_011541495.1:c.520C>T	XP_011539797.1:p.Arg174Cys
XM_011541496.1:c.523C>T	XP_011539798.1:p.Arg175Cys
NM_001330358.1:c.523C>T	NP_001317287.1:p.Arg175Cys
XM_005263460.5:c.400C>T	XP_005263517.1:p.Arg134Cys
XM_005263462.4:c.400C>T	XP_005263519.1:p.Arg134Cys
XM_005263463.4:c.154C>T	XP_005263520.1:p.Arg52Cys
XM_011541495.3:c.520C>T	XP_011539797.1:p.Arg174Cys
XM_011541496.3:c.523C>T	XP_011539798.1:p.Arg175Cys
XM_017001328.2:c.523C>T	XP_016856817.1:p.Arg175Cys
XM_024447198.1:c.154C>T	XP_024302966.1:p.Arg52Cys
XR_002956640.1:n.1267C>T
NM_005957.5:c.400C>T MANE Select	NP_005948.3:p.Arg134Cys
NM_001330358.2:c.523C>T	NP_001317287.1:p.Arg175Cys