Canonical Allele Identifier: CA595453

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1452549
• ClinVar RCV Id: RCV001999864
• dbSNP Id: rs779993607
• ExAC: 1:11854883 G / A
• gnomAD v2: 1-11854883-G-A
• gnomAD v3: 1-11794826-G-A
• gnomAD v4: 1-11794826-G-A
• MyVariant Identifiers: chr1:g.11854883G>A (hg19) ; chr1:g.11794826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794826G>A , CM000663.2:g.11794826G>A	GRCh38
NC_000001.10:g.11854883G>A , CM000663.1:g.11854883G>A	GRCh37
NC_000001.9:g.11777470G>A	NCBI36
NG_013351.1:g.16278C>T , LRG_726:g.16278C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1192C>T	ENSP00000365770.1:p.Arg398Cys
ENST00000376590.9:c.1069C>T MANE Select	ENSP00000365775.3:p.Arg357Cys
ENST00000376592.6:c.1069C>T	ENSP00000365777.1:p.Arg357Cys
ENST00000423400.7:c.1189C>T	ENSP00000398908.3:p.Arg397Cys
ENST00000641407.1:c.1069C>T	ENSP00000493098.1:p.Arg357Cys
ENST00000641446.1:c.1069C>T	ENSP00000493262.1:p.Arg357Cys
ENST00000641747.1:c.*581C>T	ENSP00000493116.1:n.*581C>T
ENST00000641759.1:n.1438C>T
ENST00000641805.1:n.1586C>T
ENST00000641820.1:c.334C>T	ENSP00000492937.1:p.Arg112Cys
ENST00000376583.7:c.1192C>T	ENSP00000365767.3:p.Arg398Cys
ENST00000376585.5:c.1192C>T	ENSP00000365770.1:p.Arg398Cys
ENST00000376590.7:c.1069C>T	ENSP00000365775.3:p.Arg357Cys
ENST00000376592.5:c.1069C>T	ENSP00000365777.1:p.Arg357Cys
NM_005957.4:c.1069C>T , LRG_726t1:c.1069C>T	NP_005948.3:p.Arg357Cys
XM_005263458.2:c.1192C>T	XP_005263515.1:p.Arg398Cys
XM_005263460.3:c.1069C>T	XP_005263517.1:p.Arg357Cys
XM_005263461.3:c.1069C>T	XP_005263518.1:p.Arg357Cys
XM_005263462.3:c.1069C>T	XP_005263519.1:p.Arg357Cys
XM_005263463.2:c.823C>T	XP_005263520.1:p.Arg275Cys
XM_011541495.1:c.1189C>T	XP_011539797.1:p.Arg397Cys
XM_011541496.1:c.1192C>T	XP_011539798.1:p.Arg398Cys
NM_001330358.1:c.1192C>T	NP_001317287.1:p.Arg398Cys
XM_005263460.5:c.1069C>T	XP_005263517.1:p.Arg357Cys
XM_005263462.4:c.1069C>T	XP_005263519.1:p.Arg357Cys
XM_005263463.4:c.823C>T	XP_005263520.1:p.Arg275Cys
XM_011541495.3:c.1189C>T	XP_011539797.1:p.Arg397Cys
XM_011541496.3:c.1192C>T	XP_011539798.1:p.Arg398Cys
XM_017001328.2:c.1192C>T	XP_016856817.1:p.Arg398Cys
XM_024447198.1:c.823C>T	XP_024302966.1:p.Arg275Cys
XR_002956640.1:n.2170C>T
NM_005957.5:c.1069C>T MANE Select	NP_005948.3:p.Arg357Cys
NM_001330358.2:c.1192C>T	NP_001317287.1:p.Arg398Cys