Canonical Allele Identifier: CA3018568

Gene: ADH4

Linked Data

• dbSNP Id: rs772910431
• ExAC: 4:100045581 C / T
• gnomAD v2: 4-100045581-C-T
• gnomAD v4: 4-99124430-C-T
• MyVariant Identifiers: chr4:g.100045581C>T (hg19) ; chr4:g.99124430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99124430C>T , CM000666.2:g.99124430C>T	GRCh38
NC_000004.11:g.100045581C>T , CM000666.1:g.100045581C>T	GRCh37
NC_000004.10:g.100264604C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000265512.12:c.*12G>A MANE Select	ENSP00000265512.7:n.*12G>A
ENST00000265512.11:c.*12G>A	ENSP00000265512.7:n.*12G>A
ENST00000505590.5:c.*12G>A	ENSP00000425416.1:n.*12G>A
ENST00000508393.5:c.*12G>A	ENSP00000424630.1:n.*12G>A
ENST00000509471.5:c.509G>A	ENSP00000424583.1:n.509G>A
ENST00000629236.2:c.1152G>A	ENSP00000486450.1:p.Glu384=
NM_000670.3:c.*12G>A	NP_000661.2:n.*12G>A
NM_000670.4:c.*12G>A	NP_000661.2:n.*12G>A
NM_001306171.1:c.*12G>A	NP_001293100.1:n.*12G>A
NM_001306172.1:c.*12G>A	NP_001293101.1:n.*12G>A
NR_037884.1:n.429-9125C>T
XR_938685.1:n.1494G>A
XR_938686.1:n.1485G>A
XR_938687.1:n.1358G>A
NM_000670.5:c.*12G>A MANE Select	NP_000661.2:n.*12G>A
NM_001306171.2:c.*12G>A	NP_001293100.1:n.*12G>A
NM_001306172.2:c.*12G>A	NP_001293101.1:n.*12G>A