Canonical Allele Identifier: CA357479779

Gene: ADH4

Linked Data

• dbSNP Id: rs1180852588
• gnomAD v2: 4-100048422-C-T
• gnomAD v3: 4-99127271-C-T
• gnomAD v4: 4-99127271-C-T
• MyVariant Identifiers: chr4:g.100048422C>T (hg19) ; chr4:g.99127271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127271C>T , CM000666.2:g.99127271C>T	GRCh38
NC_000004.11:g.100048422C>T , CM000666.1:g.100048422C>T	GRCh37
NC_000004.10:g.100267445C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.917G>A MANE Select	ENSP00000265512.7:p.Gly306Glu
ENST00000265512.11:c.917G>A	ENSP00000265512.7:p.Gly306Glu
ENST00000505590.5:c.974G>A	ENSP00000425416.1:p.Gly325Glu
ENST00000506705.5:c.*891G>A	ENSP00000426667.1:n.*891G>A
ENST00000508393.5:c.974G>A	ENSP00000424630.1:p.Gly325Glu
ENST00000509471.5:c.334-539G>A	ENSP00000424583.1:n.334-539G>A
ENST00000629236.2:c.917G>A	ENSP00000486450.1:p.Gly306Glu
NM_000670.3:c.917G>A	NP_000661.2:p.Gly306Glu
NM_000670.4:c.917G>A	NP_000661.2:p.Gly306Glu
NM_001306171.1:c.974G>A	NP_001293100.1:p.Gly325Glu
NM_001306172.1:c.974G>A	NP_001293101.1:p.Gly325Glu
NR_037884.1:n.429-6284C>T
XR_938685.1:n.1145G>A
XR_938686.1:n.1136G>A
XR_938687.1:n.1009G>A
NM_000670.5:c.917G>A MANE Select	NP_000661.2:p.Gly306Glu
NM_001306171.2:c.974G>A	NP_001293100.1:p.Gly325Glu
NM_001306172.2:c.974G>A	NP_001293101.1:p.Gly325Glu