Canonical Allele Identifier: CA357478497

Gene: ADH4

Linked Data

• gnomAD v4: 4-99124442-T-G
• MyVariant Identifiers: chr4:g.100045593T>G (hg19) ; chr4:g.99124442T>G (hg38)

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