Canonical Allele Identifier: CA357480062

Gene: ADH4

Linked Data

• gnomAD v4: 4-99127322-G-T
• MyVariant Identifiers: chr4:g.100048473G>T (hg19) ; chr4:g.99127322G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127322G>T , CM000666.2:g.99127322G>T	GRCh38
NC_000004.11:g.100048473G>T , CM000666.1:g.100048473G>T	GRCh37
NC_000004.10:g.100267496G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.866C>A MANE Select	ENSP00000265512.7:p.Thr289Asn
ENST00000265512.11:c.866C>A	ENSP00000265512.7:p.Thr289Asn
ENST00000505590.5:c.923C>A	ENSP00000425416.1:p.Thr308Asn
ENST00000506705.5:c.*840C>A	ENSP00000426667.1:n.*840C>A
ENST00000508393.5:c.923C>A	ENSP00000424630.1:p.Thr308Asn
ENST00000509471.5:c.334-590C>A	ENSP00000424583.1:n.334-590C>A
ENST00000629236.2:c.866C>A	ENSP00000486450.1:p.Thr289Asn
NM_000670.3:c.866C>A	NP_000661.2:p.Thr289Asn
NM_000670.4:c.866C>A	NP_000661.2:p.Thr289Asn
NM_001306171.1:c.923C>A	NP_001293100.1:p.Thr308Asn
NM_001306172.1:c.923C>A	NP_001293101.1:p.Thr308Asn
NR_037884.1:n.429-6233G>T
XR_938685.1:n.1094C>A
XR_938686.1:n.1085C>A
XR_938687.1:n.958C>A
NM_000670.5:c.866C>A MANE Select	NP_000661.2:p.Thr289Asn
NM_001306171.2:c.923C>A	NP_001293100.1:p.Thr308Asn
NM_001306172.2:c.923C>A	NP_001293101.1:p.Thr308Asn