Canonical Allele Identifier: CA3020735

Gene: ADH7

Linked Data

• dbSNP Id: rs778846877
• ExAC: 4:100341766 A / G
• gnomAD v2: 4-100341766-A-G
• gnomAD v4: 4-99420609-A-G
• MyVariant Identifiers: chr4:g.100341766A>G (hg19) ; chr4:g.99420609A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420609A>G , CM000666.2:g.99420609A>G	GRCh38
NC_000004.11:g.100341766A>G , CM000666.1:g.100341766A>G	GRCh37
NC_000004.10:g.100560789A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000437033.7:c.749T>C MANE Select	ENSP00000414254.2:p.Ile250Thr
ENST00000209665.8:c.785T>C	ENSP00000209665.4:p.Ile262Thr
ENST00000437033.6:c.749T>C	ENSP00000414254.2:p.Ile250Thr
ENST00000476959.5:c.809T>C	ENSP00000420269.1:p.Ile270Thr
ENST00000482593.5:c.578T>C	ENSP00000420613.1:p.Ile193Thr
NM_000673.4:c.785T>C	NP_000664.2:p.Ile262Thr
NM_001166504.1:c.809T>C	NP_001159976.1:p.Ile270Thr
NM_000673.7:c.749T>C MANE Select	NP_000664.3:p.Ile250Thr
NM_001166504.2:c.809T>C	NP_001159976.1:p.Ile270Thr