Canonical Allele Identifier: CA595506

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 767158
• ClinVar RCV Id: RCV000945826
• dbSNP Id: rs45498098
• ExAC: 1:11855268 G / A
• gnomAD v2: 1-11855268-G-A
• gnomAD v3: 1-11795211-G-A
• gnomAD v4: 1-11795211-G-A
• MyVariant Identifiers: chr1:g.11855268G>A (hg19) ; chr1:g.11795211G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795211G>A , CM000663.2:g.11795211G>A	GRCh38
NC_000001.10:g.11855268G>A , CM000663.1:g.11855268G>A	GRCh37
NC_000001.9:g.11777855G>A	NCBI36
NG_013351.1:g.15893C>T , LRG_726:g.15893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1041C>T	ENSP00000365770.1:p.Cys347=
ENST00000376590.9:c.918C>T MANE Select	ENSP00000365775.3:p.Cys306=
ENST00000376592.6:c.918C>T	ENSP00000365777.1:p.Cys306=
ENST00000423400.7:c.1038C>T	ENSP00000398908.3:p.Cys346=
ENST00000641407.1:c.918C>T	ENSP00000493098.1:p.Cys306=
ENST00000641446.1:c.918C>T	ENSP00000493262.1:p.Cys306=
ENST00000641721.1:n.781C>T
ENST00000641747.1:c.*430C>T	ENSP00000493116.1:n.*430C>T
ENST00000641759.1:n.1053C>T
ENST00000641805.1:n.1201C>T
ENST00000641820.1:c.183C>T	ENSP00000492937.1:p.Cys61=
ENST00000376583.7:c.1041C>T	ENSP00000365767.3:p.Cys347=
ENST00000376585.5:c.1041C>T	ENSP00000365770.1:p.Cys347=
ENST00000376590.7:c.918C>T	ENSP00000365775.3:p.Cys306=
ENST00000376592.5:c.918C>T	ENSP00000365777.1:p.Cys306=
NM_005957.4:c.918C>T , LRG_726t1:c.918C>T	NP_005948.3:p.Cys306=
XM_005263458.2:c.1041C>T	XP_005263515.1:p.Cys347=
XM_005263460.3:c.918C>T	XP_005263517.1:p.Cys306=
XM_005263461.3:c.918C>T	XP_005263518.1:p.Cys306=
XM_005263462.3:c.918C>T	XP_005263519.1:p.Cys306=
XM_005263463.2:c.672C>T	XP_005263520.1:p.Cys224=
XM_011541495.1:c.1038C>T	XP_011539797.1:p.Cys346=
XM_011541496.1:c.1041C>T	XP_011539798.1:p.Cys347=
NM_001330358.1:c.1041C>T	NP_001317287.1:p.Cys347=
XM_005263460.5:c.918C>T	XP_005263517.1:p.Cys306=
XM_005263462.4:c.918C>T	XP_005263519.1:p.Cys306=
XM_005263463.4:c.672C>T	XP_005263520.1:p.Cys224=
XM_011541495.3:c.1038C>T	XP_011539797.1:p.Cys346=
XM_011541496.3:c.1041C>T	XP_011539798.1:p.Cys347=
XM_017001328.2:c.1041C>T	XP_016856817.1:p.Cys347=
XM_024447198.1:c.672C>T	XP_024302966.1:p.Cys224=
XR_002956640.1:n.1785C>T
NM_005957.5:c.918C>T MANE Select	NP_005948.3:p.Cys306=
NM_001330358.2:c.1041C>T	NP_001317287.1:p.Cys347=