Canonical Allele Identifier: CA3018666

Gene: ADH4

Linked Data

• dbSNP Id: rs750236433
• ExAC: 4:100048463 C / G
• gnomAD v2: 4-100048463-C-G
• gnomAD v4: 4-99127312-C-G
• MyVariant Identifiers: chr4:g.100048463C>G (hg19) ; chr4:g.99127312C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127312C>G , CM000666.2:g.99127312C>G	GRCh38
NC_000004.11:g.100048463C>G , CM000666.1:g.100048463C>G	GRCh37
NC_000004.10:g.100267486C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.876G>C MANE Select	ENSP00000265512.7:p.Trp292Cys
ENST00000265512.11:c.876G>C	ENSP00000265512.7:p.Trp292Cys
ENST00000505590.5:c.933G>C	ENSP00000425416.1:p.Trp311Cys
ENST00000506705.5:c.*850G>C	ENSP00000426667.1:n.*850G>C
ENST00000508393.5:c.933G>C	ENSP00000424630.1:p.Trp311Cys
ENST00000509471.5:c.334-580G>C	ENSP00000424583.1:n.334-580G>C
ENST00000629236.2:c.876G>C	ENSP00000486450.1:p.Trp292Cys
NM_000670.3:c.876G>C	NP_000661.2:p.Trp292Cys
NM_000670.4:c.876G>C	NP_000661.2:p.Trp292Cys
NM_001306171.1:c.933G>C	NP_001293100.1:p.Trp311Cys
NM_001306172.1:c.933G>C	NP_001293101.1:p.Trp311Cys
NR_037884.1:n.429-6243C>G
XR_938685.1:n.1104G>C
XR_938686.1:n.1095G>C
XR_938687.1:n.968G>C
NM_000670.5:c.876G>C MANE Select	NP_000661.2:p.Trp292Cys
NM_001306171.2:c.933G>C	NP_001293100.1:p.Trp311Cys
NM_001306172.2:c.933G>C	NP_001293101.1:p.Trp311Cys