Canonical Allele Identifier: CA3020761
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs971074
gnomAD v3: 4-99420704-C-T
gnomAD v4: 4-99420704-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420704C>T , CM000666.2:g.99420704C>T GRCh38
NC_000004.11:g.100341861C>T , CM000666.1:g.100341861C>T GRCh37
NC_000004.10:g.100560884C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000437033.7:c.654G>A MANE Select ENSP00000414254.2:p.Arg218=
ENST00000209665.8:c.690G>A ENSP00000209665.4:p.Arg230=
ENST00000437033.6:c.654G>A ENSP00000414254.2:p.Arg218=
ENST00000476959.5:c.714G>A ENSP00000420269.1:p.Arg238=
ENST00000482593.5:c.483G>A ENSP00000420613.1:p.Arg161=
NM_000673.4:c.690G>A NP_000664.2:p.Arg230=
NM_001166504.1:c.714G>A NP_001159976.1:p.Arg238=
NM_000673.7:c.654G>A MANE Select NP_000664.3:p.Arg218=
NM_001166504.2:c.714G>A NP_001159976.1:p.Arg238=