Canonical Allele Identifier: CA3020730
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs374938260
gnomAD v3: 4-99420575-G-A
gnomAD v4: 4-99420575-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420575G>A , CM000666.2:g.99420575G>A GRCh38
NC_000004.11:g.100341732G>A , CM000666.1:g.100341732G>A GRCh37
NC_000004.10:g.100560755G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.783C>T MANE Select ENSP00000414254.2:p.Asn261=
ENST00000209665.8:c.819C>T ENSP00000209665.4:p.Asn273=
ENST00000437033.6:c.783C>T ENSP00000414254.2:p.Asn261=
ENST00000476959.5:c.843C>T ENSP00000420269.1:p.Asn281=
ENST00000482593.5:c.612C>T ENSP00000420613.1:p.Asn204=
NM_000673.4:c.819C>T NP_000664.2:p.Asn273=
NM_001166504.1:c.843C>T NP_001159976.1:p.Asn281=
NM_000673.7:c.783C>T MANE Select NP_000664.3:p.Asn261=
NM_001166504.2:c.843C>T NP_001159976.1:p.Asn281=