Canonical Allele Identifier: CA553096273

Gene: ADH4

Linked Data

• dbSNP Id: rs1483174914
• gnomAD v2: 4-100055628-C-T
• gnomAD v3: 4-99134477-C-T
• gnomAD v4: 4-99134477-C-T
• MyVariant Identifiers: chr4:g.100055628C>T (hg19) ; chr4:g.99134477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99134477C>T , CM000666.2:g.99134477C>T	GRCh38
NC_000004.11:g.100055628C>T , CM000666.1:g.100055628C>T	GRCh37
NC_000004.10:g.100274651C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000265512.12:c.582+1989G>A MANE Select	ENSP00000265512.7:n.582+1989G>A
ENST00000265512.11:c.582+1989G>A	ENSP00000265512.7:n.582+1989G>A
ENST00000503416.5:n.595+1989G>A
ENST00000504125.1:c.528+1989G>A	ENSP00000427525.1:n.528+1989G>A
ENST00000505590.5:c.639+1989G>A	ENSP00000425416.1:n.639+1989G>A
ENST00000506705.5:c.*556+1989G>A	ENSP00000426667.1:n.*556+1989G>A
ENST00000508393.5:c.639+1989G>A	ENSP00000424630.1:n.639+1989G>A
ENST00000509471.5:c.72+1989G>A	ENSP00000424583.1:n.72+1989G>A
ENST00000512499.5:c.639+1989G>A	ENSP00000423571.1:n.639+1989G>A
ENST00000629236.2:c.582+1989G>A	ENSP00000486450.1:n.582+1989G>A
NM_000670.3:c.582+1989G>A	NP_000661.2:n.582+1989G>A
NM_000670.4:c.582+1989G>A	NP_000661.2:n.582+1989G>A
NM_001306171.1:c.639+1989G>A	NP_001293100.1:n.639+1989G>A
NM_001306172.1:c.639+1989G>A	NP_001293101.1:n.639+1989G>A
NR_037884.1:n.679+672C>T
XR_938685.1:n.810+1989G>A
XR_938686.1:n.801+1989G>A
XR_938687.1:n.674+1989G>A
NM_000670.5:c.582+1989G>A MANE Select	NP_000661.2:n.582+1989G>A
NM_001306171.2:c.639+1989G>A	NP_001293100.1:n.639+1989G>A
NM_001306172.2:c.639+1989G>A	NP_001293101.1:n.639+1989G>A