Canonical Allele Identifier: CA3020738

Gene: ADH7

Linked Data

• dbSNP Id: rs368178823
• ExAC: 4:100341782 C / T
• gnomAD v2: 4-100341782-C-T
• gnomAD v4: 4-99420625-C-T
• MyVariant Identifiers: chr4:g.100341782C>T (hg19) ; chr4:g.99420625C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420625C>T , CM000666.2:g.99420625C>T	GRCh38
NC_000004.11:g.100341782C>T , CM000666.1:g.100341782C>T	GRCh37
NC_000004.10:g.100560805C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.733G>A MANE Select	ENSP00000414254.2:p.Asp245Asn
ENST00000209665.8:c.769G>A	ENSP00000209665.4:p.Asp257Asn
ENST00000437033.6:c.733G>A	ENSP00000414254.2:p.Asp245Asn
ENST00000476959.5:c.793G>A	ENSP00000420269.1:p.Asp265Asn
ENST00000482593.5:c.562G>A	ENSP00000420613.1:p.Asp188Asn
NM_000673.4:c.769G>A	NP_000664.2:p.Asp257Asn
NM_001166504.1:c.793G>A	NP_001159976.1:p.Asp265Asn
NM_000673.7:c.733G>A MANE Select	NP_000664.3:p.Asp245Asn
NM_001166504.2:c.793G>A	NP_001159976.1:p.Asp265Asn