Canonical Allele Identifier: CA357479412

Gene: ADH4

Linked Data

• gnomAD v4: 4-99126686-C-A
• MyVariant Identifiers: chr4:g.100047837C>A (hg19) ; chr4:g.99126686C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99126686C>A , CM000666.2:g.99126686C>A	GRCh38
NC_000004.11:g.100047837C>A , CM000666.1:g.100047837C>A	GRCh37
NC_000004.10:g.100266860C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.1026G>T MANE Select	ENSP00000265512.7:p.Lys342Asn
ENST00000265512.11:c.1026G>T	ENSP00000265512.7:p.Lys342Asn
ENST00000505590.5:c.1083G>T	ENSP00000425416.1:p.Lys361Asn
ENST00000506705.5:c.*1000G>T	ENSP00000426667.1:n.*1000G>T
ENST00000508393.5:c.1083G>T	ENSP00000424630.1:p.Lys361Asn
ENST00000509471.5:c.380G>T	ENSP00000424583.1:n.380G>T
ENST00000629236.2:c.1026G>T	ENSP00000486450.1:p.Lys342Asn
NM_000670.3:c.1026G>T	NP_000661.2:p.Lys342Asn
NM_000670.4:c.1026G>T	NP_000661.2:p.Lys342Asn
NM_001306171.1:c.1083G>T	NP_001293100.1:p.Lys361Asn
NM_001306172.1:c.1083G>T	NP_001293101.1:p.Lys361Asn
NR_037884.1:n.429-6869C>A
XR_938685.1:n.1254G>T
XR_938686.1:n.1245G>T
XR_938687.1:n.1118G>T
NM_000670.5:c.1026G>T MANE Select	NP_000661.2:p.Lys342Asn
NM_001306171.2:c.1083G>T	NP_001293100.1:p.Lys361Asn
NM_001306172.2:c.1083G>T	NP_001293101.1:p.Lys361Asn