Canonical Allele Identifier: CA3018674

Gene: ADH4

Linked Data

• dbSNP Id: rs769350516
• ExAC: 4:100048487 GGCT / G
• gnomAD v2: 4-100048487-GGCT-G
• gnomAD v4: 4-99127336-GGCT-G
• MyVariant Identifiers: chr4:g.100048488_100048490del (hg19) ; chr4:g.99127337_99127339del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127340_99127342del , CM000666.2:g.99127340_99127342del	GRCh38
NC_000004.11:g.100048491_100048493del , CM000666.1:g.100048491_100048493del	GRCh37
NC_000004.10:g.100267514_100267516del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.849_851del MANE Select	ENSP00000265512.7:p.Ala284del
ENST00000265512.11:c.849_851del	ENSP00000265512.7:p.Ala284del
ENST00000505590.5:c.906_908del	ENSP00000425416.1:p.Ala303del
ENST00000506705.5:c.*823_*825del	ENSP00000426667.1:n.*823_*825del
ENST00000508393.5:c.906_908del	ENSP00000424630.1:p.Ala303del
ENST00000509471.5:c.334-607_334-605del	ENSP00000424583.1:n.334-607_334-605del
ENST00000629236.2:c.849_851del	ENSP00000486450.1:p.Ala284del
NM_000670.3:c.849_851del	NP_000661.2:p.Ala284del
NM_000670.4:c.849_851del	NP_000661.2:p.Ala284del
NM_001306171.1:c.906_908del	NP_001293100.1:p.Ala303del
NM_001306172.1:c.906_908del	NP_001293101.1:p.Ala303del
NR_037884.1:n.429-6215_429-6213del
XR_938685.1:n.1077_1079del
XR_938686.1:n.1068_1070del
XR_938687.1:n.941_943del
NM_000670.5:c.849_851del MANE Select	NP_000661.2:p.Ala284del
NM_001306171.2:c.906_908del	NP_001293100.1:p.Ala303del
NM_001306172.2:c.906_908del	NP_001293101.1:p.Ala303del