Canonical Allele Identifier: CA357497649

Gene: ADH7

Linked Data

• dbSNP Id: rs752766164
• gnomAD v3: 4-99420676-T-A
• gnomAD v4: 4-99420676-T-A
• MyVariant Identifiers: chr4:g.100341833T>A (hg19) ; chr4:g.99420676T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420676T>A , CM000666.2:g.99420676T>A	GRCh38
NC_000004.11:g.100341833T>A , CM000666.1:g.100341833T>A	GRCh37
NC_000004.10:g.100560856T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.682A>T MANE Select	ENSP00000414254.2:p.Lys228Ter
ENST00000209665.8:c.718A>T	ENSP00000209665.4:p.Lys240Ter
ENST00000437033.6:c.682A>T	ENSP00000414254.2:p.Lys228Ter
ENST00000476959.5:c.742A>T	ENSP00000420269.1:p.Lys248Ter
ENST00000482593.5:c.511A>T	ENSP00000420613.1:p.Lys171Ter
NM_000673.4:c.718A>T	NP_000664.2:p.Lys240Ter
NM_001166504.1:c.742A>T	NP_001159976.1:p.Lys248Ter
NM_000673.7:c.682A>T MANE Select	NP_000664.3:p.Lys228Ter
NM_001166504.2:c.742A>T	NP_001159976.1:p.Lys248Ter