Canonical Allele Identifier: CA357478497
Gene: ADH4 HGNC NCBI

Linked Data

gnomAD v4: 4-99124442-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99124442T>G , CM000666.2:g.99124442T>G GRCh38
NC_000004.11:g.100045593T>G , CM000666.1:g.100045593T>G GRCh37
NC_000004.10:g.100264616T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.1143A>C MANE Select ENSP00000265512.7:p.Ter381Cys
ENST00000265512.11:c.1143A>C ENSP00000265512.7:p.Ter381Cys
ENST00000505590.5:c.1200A>C ENSP00000425416.1:p.Ter400Cys
ENST00000508393.5:c.1200A>C ENSP00000424630.1:p.Ter400Cys
ENST00000509471.5:c.497A>C ENSP00000424583.1:n.497A>C
ENST00000629236.2:c.1141-1A>C ENSP00000486450.1:n.1141-1A>C
NM_000670.3:c.1143A>C NP_000661.2:p.Ter381Cys
NM_000670.4:c.1143A>C NP_000661.2:p.Ter381Cys
NM_001306171.1:c.1200A>C NP_001293100.1:p.Ter400Cys
NM_001306172.1:c.1200A>C NP_001293101.1:p.Ter400Cys
NR_037884.1:n.429-9113T>G
XR_938685.1:n.1482A>C
XR_938686.1:n.1473A>C
XR_938687.1:n.1346A>C
NM_000670.5:c.1143A>C MANE Select NP_000661.2:p.Ter381Cys
NM_001306171.2:c.1200A>C NP_001293100.1:p.Ter400Cys
NM_001306172.2:c.1200A>C NP_001293101.1:p.Ter400Cys