Canonical Allele Identifier: CA440506389

Gene: ADH7

Linked Data

• dbSNP Id: rs1389473816
• gnomAD v2: 4-100341753-C-A
• gnomAD v4: 4-99420596-C-A
• MyVariant Identifiers: chr4:g.100341753C>A (hg19) ; chr4:g.99420596C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420596C>A , CM000666.2:g.99420596C>A	GRCh38
NC_000004.11:g.100341753C>A , CM000666.1:g.100341753C>A	GRCh37
NC_000004.10:g.100560776C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.762G>T MANE Select	ENSP00000414254.2:p.Leu254=
ENST00000209665.8:c.798G>T	ENSP00000209665.4:p.Leu266=
ENST00000437033.6:c.762G>T	ENSP00000414254.2:p.Leu254=
ENST00000476959.5:c.822G>T	ENSP00000420269.1:p.Leu274=
ENST00000482593.5:c.591G>T	ENSP00000420613.1:p.Leu197=
NM_000673.4:c.798G>T	NP_000664.2:p.Leu266=
NM_001166504.1:c.822G>T	NP_001159976.1:p.Leu274=
NM_000673.7:c.762G>T MANE Select	NP_000664.3:p.Leu254=
NM_001166504.2:c.822G>T	NP_001159976.1:p.Leu274=