Canonical Allele Identifier: CA17977116

Gene: MTHFR

Linked Data

• dbSNP Id: rs558358450
• gnomAD v2: 1-11865822-C-G
• gnomAD v3: 1-11805765-C-G
• gnomAD v4: 1-11805765-C-G
• MyVariant Identifiers: chr1:g.11865822C>G (hg19) ; chr1:g.11805765C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11805765C>G , CM000663.2:g.11805765C>G	GRCh38
NC_000001.10:g.11865822C>G , CM000663.1:g.11865822C>G	GRCh37
NC_000001.9:g.11788409C>G	NCBI36
NG_008766.1:g.4616C>G
NG_013351.1:g.5339G>C , LRG_726:g.5339G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-11+123G>C	ENSP00000365669.3:n.-11+123G>C
ENST00000376590.9:c.-14+123G>C MANE Select	ENSP00000365775.3:n.-14+123G>C
ENST00000641437.1:n.119+123G>C
ENST00000641446.1:c.-14+123G>C	ENSP00000493262.1:n.-14+123G>C
ENST00000641747.1:c.-14+123G>C	ENSP00000493116.1:n.-14+123G>C
ENST00000642002.1:n.216+123G>C
ENST00000376486.2:c.-14+123G>C	ENSP00000365669.2:n.-14+123G>C
ENST00000376590.7:c.-14+123G>C	ENSP00000365775.3:n.-14+123G>C
ENST00000418034.1:c.-432G>C	ENSP00000405082.1:n.-432G>C
NM_005957.4:c.-14+123G>C , LRG_726t1:c.-14+123G>C	NP_005948.3:n.-14+123G>C
XM_005263460.3:c.-432G>C	XP_005263517.1:n.-432G>C
XM_005263461.3:c.-429G>C	XP_005263518.1:n.-429G>C
XM_005263462.3:c.-11+123G>C	XP_005263519.1:n.-11+123G>C
XM_005263463.2:c.-277+123G>C	XP_005263520.1:n.-277+123G>C
XM_005263460.5:c.-432G>C	XP_005263517.1:n.-432G>C
XM_005263462.4:c.-11+123G>C	XP_005263519.1:n.-11+123G>C
XM_005263463.4:c.-277+123G>C	XP_005263520.1:n.-277+123G>C
NM_005957.5:c.-14+123G>C MANE Select	NP_005948.3:n.-14+123G>C