Canonical Allele Identifier: CA102646361

Gene: ADH7

Linked Data

• dbSNP Id: rs757198627
• gnomAD v2: 4-100341930-G-C
• gnomAD v3: 4-99420773-G-C
• gnomAD v4: 4-99420773-G-C
• MyVariant Identifiers: chr4:g.100341930G>C (hg19) ; chr4:g.99420773G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420773G>C , CM000666.2:g.99420773G>C	GRCh38
NC_000004.11:g.100341930G>C , CM000666.1:g.100341930G>C	GRCh37
NC_000004.10:g.100560953G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.585C>G MANE Select	ENSP00000414254.2:p.Cys195Trp
ENST00000209665.8:c.621C>G	ENSP00000209665.4:p.Cys207Trp
ENST00000437033.6:c.585C>G	ENSP00000414254.2:p.Cys195Trp
ENST00000476959.5:c.645C>G	ENSP00000420269.1:p.Cys215Trp
ENST00000482593.5:c.414C>G	ENSP00000420613.1:p.Cys138Trp
NM_000673.4:c.621C>G	NP_000664.2:p.Cys207Trp
NM_001166504.1:c.645C>G	NP_001159976.1:p.Cys215Trp
NM_000673.7:c.585C>G MANE Select	NP_000664.3:p.Cys195Trp
NM_001166504.2:c.645C>G	NP_001159976.1:p.Cys215Trp