Canonical Allele Identifier: CA521192366

Gene: MTHFR

Linked Data

• dbSNP Id: rs1557755560
• gnomAD v2: 1-11850365-T-TAA
• gnomAD v3: 1-11790308-T-TAA
• gnomAD v4: 1-11790308-T-TAA
• MyVariant Identifiers: chr1:g.11850365_11850366insAA (hg19) ; chr1:g.11790308_11790309insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790308_11790309insAA , CM000663.2:g.11790308_11790309insAA	GRCh38
NC_000001.10:g.11850365_11850366insAA , CM000663.1:g.11850365_11850366insAA	GRCh37
NC_000001.9:g.11772952_11772953insAA	NCBI36
NG_013351.1:g.20795_20796insTT , LRG_726:g.20795_20796insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*371_*372insTT	ENSP00000365770.1:n.*371_*372insTT
ENST00000376590.9:c.*371_*372insTT MANE Select	ENSP00000365775.3:n.*371_*372insTT
ENST00000376592.6:c.*371_*372insTT	ENSP00000365777.1:n.*371_*372insTT
ENST00000423400.7:c.*371_*372insTT	ENSP00000398908.3:n.*371_*372insTT
ENST00000641446.1:c.*801_*802insTT	ENSP00000493262.1:n.*801_*802insTT
ENST00000641747.1:c.*1854_*1855insTT	ENSP00000493116.1:n.*1854_*1855insTT
ENST00000641805.1:n.2677_2678insTT
ENST00000376583.7:c.2465_2466insTT	ENSP00000365767.3:n.2465_2466insTT
ENST00000376585.5:c.*371_*372insTT	ENSP00000365770.1:n.*371_*372insTT
ENST00000376590.7:c.*371_*372insTT	ENSP00000365775.3:n.*371_*372insTT
ENST00000376592.5:c.*371_*372insTT	ENSP00000365777.1:n.*371_*372insTT
NM_005957.4:c.*371_*372insTT , LRG_726t1:c.*371_*372insTT	NP_005948.3:n.*371_*372insTT
XM_005263458.2:c.*371_*372insTT	XP_005263515.1:n.*371_*372insTT
XM_005263460.3:c.*371_*372insTT	XP_005263517.1:n.*371_*372insTT
XM_005263461.3:c.*371_*372insTT	XP_005263518.1:n.*371_*372insTT
XM_005263462.3:c.*371_*372insTT	XP_005263519.1:n.*371_*372insTT
XM_005263463.2:c.*371_*372insTT	XP_005263520.1:n.*371_*372insTT
XM_011541495.1:c.*371_*372insTT	XP_011539797.1:n.*371_*372insTT
XM_011541496.1:c.*231_*232insTT	XP_011539798.1:n.*231_*232insTT
NM_001330358.1:c.*371_*372insTT	NP_001317287.1:n.*371_*372insTT
XM_005263460.5:c.*371_*372insTT	XP_005263517.1:n.*371_*372insTT
XM_005263462.4:c.*371_*372insTT	XP_005263519.1:n.*371_*372insTT
XM_005263463.4:c.*371_*372insTT	XP_005263520.1:n.*371_*372insTT
XM_011541495.3:c.*371_*372insTT	XP_011539797.1:n.*371_*372insTT
XM_011541496.3:c.*231_*232insTT	XP_011539798.1:n.*231_*232insTT
XM_024447198.1:c.*371_*372insTT	XP_024302966.1:n.*371_*372insTT
NM_005957.5:c.*371_*372insTT MANE Select	NP_005948.3:n.*371_*372insTT
NM_001330358.2:c.*371_*372insTT	NP_001317287.1:n.*371_*372insTT