Canonical Allele Identifier: CA440506484

Gene: ADH7

Linked Data

• dbSNP Id: rs1326048877
• gnomAD v2: 4-100341902-G-A
• gnomAD v4: 4-99420745-G-A
• MyVariant Identifiers: chr4:g.100341902G>A (hg19) ; chr4:g.99420745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420745G>A , CM000666.2:g.99420745G>A	GRCh38
NC_000004.11:g.100341902G>A , CM000666.1:g.100341902G>A	GRCh37
NC_000004.10:g.100560925G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.613C>T MANE Select	ENSP00000414254.2:p.Leu205=
ENST00000209665.8:c.649C>T	ENSP00000209665.4:p.Leu217=
ENST00000437033.6:c.613C>T	ENSP00000414254.2:p.Leu205=
ENST00000476959.5:c.673C>T	ENSP00000420269.1:p.Leu225=
ENST00000482593.5:c.442C>T	ENSP00000420613.1:p.Leu148=
NM_000673.4:c.649C>T	NP_000664.2:p.Leu217=
NM_001166504.1:c.673C>T	NP_001159976.1:p.Leu225=
NM_000673.7:c.613C>T MANE Select	NP_000664.3:p.Leu205=
NM_001166504.2:c.673C>T	NP_001159976.1:p.Leu225=