Canonical Allele Identifier: CA553108834
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs1250271821
gnomAD v4: 4-99428442-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99428442C>G , CM000666.2:g.99428442C>G GRCh38
NC_000004.11:g.100349599C>G , CM000666.1:g.100349599C>G GRCh37
NC_000004.10:g.100568622C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000437033.7:c.259+50G>C MANE Select ENSP00000414254.2:n.259+50G>C
ENST00000209665.8:c.295+50G>C ENSP00000209665.4:n.295+50G>C
ENST00000437033.6:c.259+50G>C ENSP00000414254.2:n.259+50G>C
ENST00000474027.1:c.88+50G>C ENSP00000420300.1:n.88+50G>C
ENST00000476959.5:c.319+50G>C ENSP00000420269.1:n.319+50G>C
ENST00000482593.5:c.88+50G>C ENSP00000420613.1:n.88+50G>C
NM_000673.4:c.295+50G>C NP_000664.2:n.295+50G>C
NM_001166504.1:c.319+50G>C NP_001159976.1:n.319+50G>C
NM_000673.7:c.259+50G>C MANE Select NP_000664.3:n.259+50G>C
NM_001166504.2:c.319+50G>C NP_001159976.1:n.319+50G>C