Canonical Allele Identifier: CA595443

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 654511
• ClinVar RCV Id: RCV000810485
• dbSNP Id: rs750323424
• ExAC: 1:11854822 C / T
• gnomAD v2: 1-11854822-C-T
• gnomAD v3: 1-11794765-C-T
• gnomAD v4: 1-11794765-C-T
• COSMIC: COSM3385072 ; COSM3385073
• MyVariant Identifiers: chr1:g.11854822C>T (hg19) ; chr1:g.11794765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794765C>T , CM000663.2:g.11794765C>T	GRCh38
NC_000001.10:g.11854822C>T , CM000663.1:g.11854822C>T	GRCh37
NC_000001.9:g.11777409C>T	NCBI36
NG_013351.1:g.16339G>A , LRG_726:g.16339G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1253G>A	ENSP00000365770.1:p.Arg418His
ENST00000376590.9:c.1130G>A MANE Select	ENSP00000365775.3:p.Arg377His
ENST00000376592.6:c.1130G>A	ENSP00000365777.1:p.Arg377His
ENST00000423400.7:c.1250G>A	ENSP00000398908.3:p.Arg417His
ENST00000641407.1:c.1130G>A	ENSP00000493098.1:p.Arg377His
ENST00000641446.1:c.1130G>A	ENSP00000493262.1:p.Arg377His
ENST00000641747.1:c.*642G>A	ENSP00000493116.1:n.*642G>A
ENST00000641759.1:n.1499G>A
ENST00000641805.1:n.1647G>A
ENST00000641820.1:c.395G>A	ENSP00000492937.1:p.Arg132His
ENST00000376583.7:c.1253G>A	ENSP00000365767.3:p.Arg418His
ENST00000376585.5:c.1253G>A	ENSP00000365770.1:p.Arg418His
ENST00000376590.7:c.1130G>A	ENSP00000365775.3:p.Arg377His
ENST00000376592.5:c.1130G>A	ENSP00000365777.1:p.Arg377His
NM_005957.4:c.1130G>A , LRG_726t1:c.1130G>A	NP_005948.3:p.Arg377His
XM_005263458.2:c.1253G>A	XP_005263515.1:p.Arg418His
XM_005263460.3:c.1130G>A	XP_005263517.1:p.Arg377His
XM_005263461.3:c.1130G>A	XP_005263518.1:p.Arg377His
XM_005263462.3:c.1130G>A	XP_005263519.1:p.Arg377His
XM_005263463.2:c.884G>A	XP_005263520.1:p.Arg295His
XM_011541495.1:c.1250G>A	XP_011539797.1:p.Arg417His
XM_011541496.1:c.1253G>A	XP_011539798.1:p.Arg418His
NM_001330358.1:c.1253G>A	NP_001317287.1:p.Arg418His
XM_005263460.5:c.1130G>A	XP_005263517.1:p.Arg377His
XM_005263462.4:c.1130G>A	XP_005263519.1:p.Arg377His
XM_005263463.4:c.884G>A	XP_005263520.1:p.Arg295His
XM_011541495.3:c.1250G>A	XP_011539797.1:p.Arg417His
XM_011541496.3:c.1253G>A	XP_011539798.1:p.Arg418His
XM_017001328.2:c.1253G>A	XP_016856817.1:p.Arg418His
XM_024447198.1:c.884G>A	XP_024302966.1:p.Arg295His
XR_002956640.1:n.2231G>A
NM_005957.5:c.1130G>A MANE Select	NP_005948.3:p.Arg377His
NM_001330358.2:c.1253G>A	NP_001317287.1:p.Arg418His