Canonical Allele Identifier: CA595449

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2045472
• ClinVar RCV Id: RCV002908662
• dbSNP Id: rs757627437
• ExAC: 1:11854874 C / T
• gnomAD v2: 1-11854874-C-T
• gnomAD v3: 1-11794817-C-T
• gnomAD v4: 1-11794817-C-T
• MyVariant Identifiers: chr1:g.11854874C>T (hg19) ; chr1:g.11794817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794817C>T , CM000663.2:g.11794817C>T	GRCh38
NC_000001.10:g.11854874C>T , CM000663.1:g.11854874C>T	GRCh37
NC_000001.9:g.11777461C>T	NCBI36
NG_013351.1:g.16287G>A , LRG_726:g.16287G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1201G>A	ENSP00000365770.1:p.Glu401Lys
ENST00000376590.9:c.1078G>A MANE Select	ENSP00000365775.3:p.Glu360Lys
ENST00000376592.6:c.1078G>A	ENSP00000365777.1:p.Glu360Lys
ENST00000423400.7:c.1198G>A	ENSP00000398908.3:p.Glu400Lys
ENST00000641407.1:c.1078G>A	ENSP00000493098.1:p.Glu360Lys
ENST00000641446.1:c.1078G>A	ENSP00000493262.1:p.Glu360Lys
ENST00000641747.1:c.*590G>A	ENSP00000493116.1:n.*590G>A
ENST00000641759.1:n.1447G>A
ENST00000641805.1:n.1595G>A
ENST00000641820.1:c.343G>A	ENSP00000492937.1:p.Glu115Lys
ENST00000376583.7:c.1201G>A	ENSP00000365767.3:p.Glu401Lys
ENST00000376585.5:c.1201G>A	ENSP00000365770.1:p.Glu401Lys
ENST00000376590.7:c.1078G>A	ENSP00000365775.3:p.Glu360Lys
ENST00000376592.5:c.1078G>A	ENSP00000365777.1:p.Glu360Lys
NM_005957.4:c.1078G>A , LRG_726t1:c.1078G>A	NP_005948.3:p.Glu360Lys
XM_005263458.2:c.1201G>A	XP_005263515.1:p.Glu401Lys
XM_005263460.3:c.1078G>A	XP_005263517.1:p.Glu360Lys
XM_005263461.3:c.1078G>A	XP_005263518.1:p.Glu360Lys
XM_005263462.3:c.1078G>A	XP_005263519.1:p.Glu360Lys
XM_005263463.2:c.832G>A	XP_005263520.1:p.Glu278Lys
XM_011541495.1:c.1198G>A	XP_011539797.1:p.Glu400Lys
XM_011541496.1:c.1201G>A	XP_011539798.1:p.Glu401Lys
NM_001330358.1:c.1201G>A	NP_001317287.1:p.Glu401Lys
XM_005263460.5:c.1078G>A	XP_005263517.1:p.Glu360Lys
XM_005263462.4:c.1078G>A	XP_005263519.1:p.Glu360Lys
XM_005263463.4:c.832G>A	XP_005263520.1:p.Glu278Lys
XM_011541495.3:c.1198G>A	XP_011539797.1:p.Glu400Lys
XM_011541496.3:c.1201G>A	XP_011539798.1:p.Glu401Lys
XM_017001328.2:c.1201G>A	XP_016856817.1:p.Glu401Lys
XM_024447198.1:c.832G>A	XP_024302966.1:p.Glu278Lys
XR_002956640.1:n.2179G>A
NM_005957.5:c.1078G>A MANE Select	NP_005948.3:p.Glu360Lys
NM_001330358.2:c.1201G>A	NP_001317287.1:p.Glu401Lys