Canonical Allele Identifier: CA553107959

Gene: ADH7

Linked Data

• dbSNP Id: rs1344654103
• gnomAD v2: 4-100341402-A-C
• gnomAD v3: 4-99420245-A-C
• gnomAD v4: 4-99420245-A-C
• MyVariant Identifiers: chr4:g.100341402A>C (hg19) ; chr4:g.99420245A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420245A>C , CM000666.2:g.99420245A>C	GRCh38
NC_000004.11:g.100341402A>C , CM000666.1:g.100341402A>C	GRCh37
NC_000004.10:g.100560425A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.825+288T>G MANE Select	ENSP00000414254.2:n.825+288T>G
ENST00000209665.8:c.861+288T>G	ENSP00000209665.4:n.861+288T>G
ENST00000437033.6:c.825+288T>G	ENSP00000414254.2:n.825+288T>G
ENST00000476959.5:c.885+288T>G	ENSP00000420269.1:n.885+288T>G
ENST00000482593.5:c.654+288T>G	ENSP00000420613.1:n.654+288T>G
NM_000673.4:c.861+288T>G	NP_000664.2:n.861+288T>G
NM_001166504.1:c.885+288T>G	NP_001159976.1:n.885+288T>G
NM_000673.7:c.825+288T>G MANE Select	NP_000664.3:n.825+288T>G
NM_001166504.2:c.885+288T>G	NP_001159976.1:n.885+288T>G