Canonical Allele Identifier: CA3020900
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs1573496
gnomAD v3: 4-99428512-C-G
gnomAD v4: 4-99428512-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99428512C>G , CM000666.2:g.99428512C>G GRCh38
NC_000004.11:g.100349669C>G , CM000666.1:g.100349669C>G GRCh37
NC_000004.10:g.100568692C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000437033.7:c.239G>C MANE Select ENSP00000414254.2:p.Gly80Ala
ENST00000209665.8:c.275G>C ENSP00000209665.4:p.Gly92Ala
ENST00000437033.6:c.239G>C ENSP00000414254.2:p.Gly80Ala
ENST00000474027.1:c.68G>C ENSP00000420300.1:p.Gly23Ala
ENST00000476959.5:c.299G>C ENSP00000420269.1:p.Gly100Ala
ENST00000482593.5:c.68G>C ENSP00000420613.1:p.Gly23Ala
NM_000673.4:c.275G>C NP_000664.2:p.Gly92Ala
NM_001166504.1:c.299G>C NP_001159976.1:p.Gly100Ala
NM_000673.7:c.239G>C MANE Select NP_000664.3:p.Gly80Ala
NM_001166504.2:c.299G>C NP_001159976.1:p.Gly100Ala