Canonical Allele Identifier: CA17976988

Gene: MTHFR

Linked Data

• dbSNP Id: rs775733268
• gnomAD v2: 1-11865713-C-T
• gnomAD v3: 1-11805656-C-T
• gnomAD v4: 1-11805656-C-T
• MyVariant Identifiers: chr1:g.11865713C>T (hg19) ; chr1:g.11805656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11805656C>T , CM000663.2:g.11805656C>T	GRCh38
NC_000001.10:g.11865713C>T , CM000663.1:g.11865713C>T	GRCh37
NC_000001.9:g.11788300C>T	NCBI36
NG_008766.1:g.4507C>T
NG_013351.1:g.5448G>A , LRG_726:g.5448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-11+232G>A	ENSP00000365669.3:n.-11+232G>A
ENST00000376590.9:c.-14+232G>A MANE Select	ENSP00000365775.3:n.-14+232G>A
ENST00000641437.1:n.119+232G>A
ENST00000641446.1:c.-14+232G>A	ENSP00000493262.1:n.-14+232G>A
ENST00000641747.1:c.-14+232G>A	ENSP00000493116.1:n.-14+232G>A
ENST00000642002.1:n.216+232G>A
ENST00000376486.2:c.-14+232G>A	ENSP00000365669.2:n.-14+232G>A
ENST00000376590.7:c.-14+232G>A	ENSP00000365775.3:n.-14+232G>A
ENST00000418034.1:c.-323G>A	ENSP00000405082.1:n.-323G>A
NM_005957.4:c.-14+232G>A , LRG_726t1:c.-14+232G>A	NP_005948.3:n.-14+232G>A
XM_005263460.3:c.-323G>A	XP_005263517.1:n.-323G>A
XM_005263461.3:c.-320G>A	XP_005263518.1:n.-320G>A
XM_005263462.3:c.-11+232G>A	XP_005263519.1:n.-11+232G>A
XM_005263463.2:c.-277+232G>A	XP_005263520.1:n.-277+232G>A
XM_005263460.5:c.-323G>A	XP_005263517.1:n.-323G>A
XM_005263462.4:c.-11+232G>A	XP_005263519.1:n.-11+232G>A
XM_005263463.4:c.-277+232G>A	XP_005263520.1:n.-277+232G>A
NM_005957.5:c.-14+232G>A MANE Select	NP_005948.3:n.-14+232G>A