Canonical Allele Identifier: CA3020902

Gene: ADH7

Linked Data

• dbSNP Id: rs760034103
• ExAC: 4:100349678 A / G
• gnomAD v2: 4-100349678-A-G
• gnomAD v3: 4-99428521-A-G
• gnomAD v4: 4-99428521-A-G
• MyVariant Identifiers: chr4:g.100349678A>G (hg19) ; chr4:g.99428521A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99428521A>G , CM000666.2:g.99428521A>G	GRCh38
NC_000004.11:g.100349678A>G , CM000666.1:g.100349678A>G	GRCh37
NC_000004.10:g.100568701A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000437033.7:c.230T>C MANE Select	ENSP00000414254.2:p.Ile77Thr
ENST00000209665.8:c.266T>C	ENSP00000209665.4:p.Ile89Thr
ENST00000437033.6:c.230T>C	ENSP00000414254.2:p.Ile77Thr
ENST00000474027.1:c.59T>C	ENSP00000420300.1:p.Ile20Thr
ENST00000476959.5:c.290T>C	ENSP00000420269.1:p.Ile97Thr
ENST00000482593.5:c.59T>C	ENSP00000420613.1:p.Ile20Thr
NM_000673.4:c.266T>C	NP_000664.2:p.Ile89Thr
NM_001166504.1:c.290T>C	NP_001159976.1:p.Ile97Thr
NM_000673.7:c.230T>C MANE Select	NP_000664.3:p.Ile77Thr
NM_001166504.2:c.290T>C	NP_001159976.1:p.Ile97Thr