Canonical Allele Identifier: CA1065885472
Gene: ADH4 HGNC NCBI

Linked Data

dbSNP Id: rs1729375592
gnomAD v3: 4-99134425-T-G
gnomAD v4: 4-99134425-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99134425T>G , CM000666.2:g.99134425T>G GRCh38
NC_000004.11:g.100055576T>G , CM000666.1:g.100055576T>G GRCh37
NC_000004.10:g.100274599T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000265512.12:c.582+2041A>C MANE Select ENSP00000265512.7:n.582+2041A>C
ENST00000265512.11:c.582+2041A>C ENSP00000265512.7:n.582+2041A>C
ENST00000503416.5:n.595+2041A>C
ENST00000504125.1:c.528+2041A>C ENSP00000427525.1:n.528+2041A>C
ENST00000505590.5:c.639+2041A>C ENSP00000425416.1:n.639+2041A>C
ENST00000506705.5:c.*556+2041A>C ENSP00000426667.1:n.*556+2041A>C
ENST00000508393.5:c.639+2041A>C ENSP00000424630.1:n.639+2041A>C
ENST00000509471.5:c.72+2041A>C ENSP00000424583.1:n.72+2041A>C
ENST00000512499.5:c.639+2041A>C ENSP00000423571.1:n.639+2041A>C
ENST00000629236.2:c.582+2041A>C ENSP00000486450.1:n.582+2041A>C
NM_000670.3:c.582+2041A>C NP_000661.2:n.582+2041A>C
NM_000670.4:c.582+2041A>C NP_000661.2:n.582+2041A>C
NM_001306171.1:c.639+2041A>C NP_001293100.1:n.639+2041A>C
NM_001306172.1:c.639+2041A>C NP_001293101.1:n.639+2041A>C
NR_037884.1:n.679+620T>G
XR_938685.1:n.810+2041A>C
XR_938686.1:n.801+2041A>C
XR_938687.1:n.674+2041A>C
NM_000670.5:c.582+2041A>C MANE Select NP_000661.2:n.582+2041A>C
NM_001306171.2:c.639+2041A>C NP_001293100.1:n.639+2041A>C
NM_001306172.2:c.639+2041A>C NP_001293101.1:n.639+2041A>C