Canonical Allele Identifier: CA116320

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 3521
• ClinVar RCV Id: RCV000003698 ; RCV000003699 ; RCV000144922 ; RCV000153515 ; RCV000350590 ; RCV000430863 ; RCV001197542 ; RCV001273149 ; RCV002227013
• dbSNP Id: rs1801131
• ExAC: 1:11854476 T / G
• gnomAD v2: 1-11854476-T-G
• gnomAD v3: 1-11794419-T-G
• gnomAD v4: 1-11794419-T-G
• MyVariant Identifiers: chr1:g.11854476T>G (hg19) ; chr1:g.11794419T>G (hg38)
• PubMed: PMID:9545395 ; PMID:10677336 ; PMID:10958762 ; PMID:11590551 ; PMID:11742092 ; PMID:11752418 ; PMID:11938441 ; PMID:12560871 ; PMID:15103709 ; PMID:15543147 ; PMID:15951337 ; PMID:16244782 ; PMID:18583979 ; PMID:20078613 ; PMID:20385995 ; PMID:22992668 ; PMID:25227144

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794419T>G , CM000663.2:g.11794419T>G	GRCh38
NC_000001.10:g.11854476T>G , CM000663.1:g.11854476T>G	GRCh37
NC_000001.9:g.11777063T>G	NCBI36
NG_013351.1:g.16685A>C , LRG_726:g.16685A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1409A>C	ENSP00000365770.1:p.Glu470Ala
ENST00000376590.9:c.1286A>C MANE Select	ENSP00000365775.3:p.Glu429Ala
ENST00000376592.6:c.1286A>C	ENSP00000365777.1:p.Glu429Ala
ENST00000423400.7:c.1406A>C	ENSP00000398908.3:p.Glu469Ala
ENST00000641407.1:c.1286A>C	ENSP00000493098.1:p.Glu429Ala
ENST00000641446.1:c.1286A>C	ENSP00000493262.1:p.Glu429Ala
ENST00000641747.1:c.*798A>C	ENSP00000493116.1:n.*798A>C
ENST00000641759.1:n.1655A>C
ENST00000641805.1:n.1803A>C
ENST00000641820.1:c.551A>C	ENSP00000492937.1:p.Glu184Ala
ENST00000376583.7:c.1409A>C	ENSP00000365767.3:p.Glu470Ala
ENST00000376585.5:c.1409A>C	ENSP00000365770.1:p.Glu470Ala
ENST00000376590.7:c.1286A>C	ENSP00000365775.3:p.Glu429Ala
ENST00000376592.5:c.1286A>C	ENSP00000365777.1:p.Glu429Ala
NM_005957.4:c.1286A>C , LRG_726t1:c.1286A>C	NP_005948.3:p.Glu429Ala
XM_005263458.2:c.1409A>C	XP_005263515.1:p.Glu470Ala
XM_005263460.3:c.1286A>C	XP_005263517.1:p.Glu429Ala
XM_005263461.3:c.1286A>C	XP_005263518.1:p.Glu429Ala
XM_005263462.3:c.1286A>C	XP_005263519.1:p.Glu429Ala
XM_005263463.2:c.1040A>C	XP_005263520.1:p.Glu347Ala
XM_011541495.1:c.1406A>C	XP_011539797.1:p.Glu469Ala
XM_011541496.1:c.1409A>C	XP_011539798.1:p.Glu470Ala
NM_001330358.1:c.1409A>C	NP_001317287.1:p.Glu470Ala
XM_005263460.5:c.1286A>C	XP_005263517.1:p.Glu429Ala
XM_005263462.4:c.1286A>C	XP_005263519.1:p.Glu429Ala
XM_005263463.4:c.1040A>C	XP_005263520.1:p.Glu347Ala
XM_011541495.3:c.1406A>C	XP_011539797.1:p.Glu469Ala
XM_011541496.3:c.1409A>C	XP_011539798.1:p.Glu470Ala
XM_017001328.2:c.1409A>C	XP_016856817.1:p.Glu470Ala
XM_024447198.1:c.1040A>C	XP_024302966.1:p.Glu347Ala
XR_002956640.1:n.2387A>C
NM_005957.5:c.1286A>C MANE Select	NP_005948.3:p.Glu429Ala
NM_001330358.2:c.1409A>C	NP_001317287.1:p.Glu470Ala