Canonical Allele Identifier: CA440318662
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs1721866000
gnomAD v3: 4-99428523-G-A
gnomAD v4: 4-99428523-G-A
MyVariant Identifiers: chr4:g.100349680G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99428523G>A , CM000666.2:g.99428523G>A GRCh38
NC_000004.11:g.100349680G>A , CM000666.1:g.100349680G>A GRCh37
NC_000004.10:g.100568703G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000437033.7:c.228C>T MANE Select ENSP00000414254.2:p.Ser76=
ENST00000209665.8:c.264C>T ENSP00000209665.4:p.Ser88=
ENST00000437033.6:c.228C>T ENSP00000414254.2:p.Ser76=
ENST00000474027.1:c.57C>T ENSP00000420300.1:p.Ser19=
ENST00000476959.5:c.288C>T ENSP00000420269.1:p.Ser96=
ENST00000482593.5:c.57C>T ENSP00000420613.1:p.Ser19=
NM_000673.4:c.264C>T NP_000664.2:p.Ser88=
NM_001166504.1:c.288C>T NP_001159976.1:p.Ser96=
NM_000673.7:c.228C>T MANE Select NP_000664.3:p.Ser76=
NM_001166504.2:c.288C>T NP_001159976.1:p.Ser96=