Canonical Allele Identifier: CA3020723

Gene: ADH7

Linked Data

• dbSNP Id: rs781445319
• ExAC: 4:100341690 CATGGTTTCAAGA / C
• gnomAD v4: 4-99420533-CATGGTTTCAAGA-C
• MyVariant Identifiers: chr4:g.100341691_100341702del (hg19) ; chr4:g.99420534_99420545del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420534_99420545del , CM000666.2:g.99420534_99420545del	GRCh38
NC_000004.11:g.100341691_100341702del , CM000666.1:g.100341691_100341702del	GRCh37
NC_000004.10:g.100560714_100560725del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.813_824del MANE Select	ENSP00000414254.2:p.His271_Met275delinsGln
ENST00000209665.8:c.849_860del	ENSP00000209665.4:p.His283_Met287delinsGln
ENST00000437033.6:c.813_824del	ENSP00000414254.2:p.His271_Met275delinsGln
ENST00000476959.5:c.873_884del	ENSP00000420269.1:p.His291_Met295delinsGln
ENST00000482593.5:c.642_653del	ENSP00000420613.1:p.His214_Met218delinsGln
NM_000673.4:c.849_860del	NP_000664.2:p.His283_Met287delinsGln
NM_001166504.1:c.873_884del	NP_001159976.1:p.His291_Met295delinsGln
NM_000673.7:c.813_824del MANE Select	NP_000664.3:p.His271_Met275delinsGln
NM_001166504.2:c.873_884del	NP_001159976.1:p.His291_Met295delinsGln