Canonical Allele Identifier: CA101603059
Gene: ADH4 HGNC NCBI

Linked Data

dbSNP Id: rs938001268
gnomAD v4: 4-99127292-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99127292C>A , CM000666.2:g.99127292C>A GRCh38
NC_000004.11:g.100048443C>A , CM000666.1:g.100048443C>A GRCh37
NC_000004.10:g.100267466C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.896G>T MANE Select ENSP00000265512.7:p.Gly299Val
ENST00000265512.11:c.896G>T ENSP00000265512.7:p.Gly299Val
ENST00000505590.5:c.953G>T ENSP00000425416.1:p.Gly318Val
ENST00000506705.5:c.*870G>T ENSP00000426667.1:n.*870G>T
ENST00000508393.5:c.953G>T ENSP00000424630.1:p.Gly318Val
ENST00000509471.5:c.334-560G>T ENSP00000424583.1:n.334-560G>T
ENST00000629236.2:c.896G>T ENSP00000486450.1:p.Gly299Val
NM_000670.3:c.896G>T NP_000661.2:p.Gly299Val
NM_000670.4:c.896G>T NP_000661.2:p.Gly299Val
NM_001306171.1:c.953G>T NP_001293100.1:p.Gly318Val
NM_001306172.1:c.953G>T NP_001293101.1:p.Gly318Val
NR_037884.1:n.429-6263C>A
XR_938685.1:n.1124G>T
XR_938686.1:n.1115G>T
XR_938687.1:n.988G>T
NM_000670.5:c.896G>T MANE Select NP_000661.2:p.Gly299Val
NM_001306171.2:c.953G>T NP_001293100.1:p.Gly318Val
NM_001306172.2:c.953G>T NP_001293101.1:p.Gly318Val