Canonical Allele Identifier: CA357479702

Gene: ADH4

Linked Data

• dbSNP Id: rs147130103
• gnomAD v4: 4-99127232-G-A
• MyVariant Identifiers: chr4:g.100048383G>A (hg19) ; chr4:g.99127232G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127232G>A , CM000666.2:g.99127232G>A	GRCh38
NC_000004.11:g.100048383G>A , CM000666.1:g.100048383G>A	GRCh37
NC_000004.10:g.100267406G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.956C>T MANE Select	ENSP00000265512.7:p.Thr319Ile
ENST00000265512.11:c.956C>T	ENSP00000265512.7:p.Thr319Ile
ENST00000505590.5:c.1013C>T	ENSP00000425416.1:p.Thr338Ile
ENST00000506705.5:c.*930C>T	ENSP00000426667.1:n.*930C>T
ENST00000508393.5:c.1013C>T	ENSP00000424630.1:p.Thr338Ile
ENST00000509471.5:c.334-500C>T	ENSP00000424583.1:n.334-500C>T
ENST00000629236.2:c.956C>T	ENSP00000486450.1:p.Thr319Ile
NM_000670.3:c.956C>T	NP_000661.2:p.Thr319Ile
NM_000670.4:c.956C>T	NP_000661.2:p.Thr319Ile
NM_001306171.1:c.1013C>T	NP_001293100.1:p.Thr338Ile
NM_001306172.1:c.1013C>T	NP_001293101.1:p.Thr338Ile
NR_037884.1:n.429-6323G>A
XR_938685.1:n.1184C>T
XR_938686.1:n.1175C>T
XR_938687.1:n.1048C>T
NM_000670.5:c.956C>T MANE Select	NP_000661.2:p.Thr319Ile
NM_001306171.2:c.1013C>T	NP_001293100.1:p.Thr338Ile
NM_001306172.2:c.1013C>T	NP_001293101.1:p.Thr338Ile