Canonical Allele Identifier: CA3018661
Gene: ADH4 HGNC NCBI

Linked Data

dbSNP Id: rs763160008
gnomAD v3: 4-99127281-C-G
gnomAD v4: 4-99127281-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99127281C>G , CM000666.2:g.99127281C>G GRCh38
NC_000004.11:g.100048432C>G , CM000666.1:g.100048432C>G GRCh37
NC_000004.10:g.100267455C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.907G>C MANE Select ENSP00000265512.7:p.Gly303Arg
ENST00000265512.11:c.907G>C ENSP00000265512.7:p.Gly303Arg
ENST00000505590.5:c.964G>C ENSP00000425416.1:p.Gly322Arg
ENST00000506705.5:c.*881G>C ENSP00000426667.1:n.*881G>C
ENST00000508393.5:c.964G>C ENSP00000424630.1:p.Gly322Arg
ENST00000509471.5:c.334-549G>C ENSP00000424583.1:n.334-549G>C
ENST00000629236.2:c.907G>C ENSP00000486450.1:p.Gly303Arg
NM_000670.3:c.907G>C NP_000661.2:p.Gly303Arg
NM_000670.4:c.907G>C NP_000661.2:p.Gly303Arg
NM_001306171.1:c.964G>C NP_001293100.1:p.Gly322Arg
NM_001306172.1:c.964G>C NP_001293101.1:p.Gly322Arg
NR_037884.1:n.429-6274C>G
XR_938685.1:n.1135G>C
XR_938686.1:n.1126G>C
XR_938687.1:n.999G>C
NM_000670.5:c.907G>C MANE Select NP_000661.2:p.Gly303Arg
NM_001306171.2:c.964G>C NP_001293100.1:p.Gly322Arg
NM_001306172.2:c.964G>C NP_001293101.1:p.Gly322Arg