Canonical Allele Identifier: CA102646312

Gene: ADH7

Linked Data

• dbSNP Id: rs753329942
• gnomAD v4: 4-99420770-G-A
• COSMIC: COSM3598584 ; COSM3598585
• MyVariant Identifiers: chr4:g.100341927G>A (hg19) ; chr4:g.99420770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420770G>A , CM000666.2:g.99420770G>A	GRCh38
NC_000004.11:g.100341927G>A , CM000666.1:g.100341927G>A	GRCh37
NC_000004.10:g.100560950G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.588C>T MANE Select	ENSP00000414254.2:p.Val196=
ENST00000209665.8:c.624C>T	ENSP00000209665.4:p.Val208=
ENST00000437033.6:c.588C>T	ENSP00000414254.2:p.Val196=
ENST00000476959.5:c.648C>T	ENSP00000420269.1:p.Val216=
ENST00000482593.5:c.417C>T	ENSP00000420613.1:p.Val139=
NM_000673.4:c.624C>T	NP_000664.2:p.Val208=
NM_001166504.1:c.648C>T	NP_001159976.1:p.Val216=
NM_000673.7:c.588C>T MANE Select	NP_000664.3:p.Val196=
NM_001166504.2:c.648C>T	NP_001159976.1:p.Val216=