Canonical Allele Identifier: CA357480307
Gene: ADH4 HGNC NCBI

Linked Data

gnomAD v4: 4-99127344-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99127344T>C , CM000666.2:g.99127344T>C GRCh38
NC_000004.11:g.100048495T>C , CM000666.1:g.100048495T>C GRCh37
NC_000004.10:g.100267518T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.844A>G MANE Select ENSP00000265512.7:p.Lys282Glu
ENST00000265512.11:c.844A>G ENSP00000265512.7:p.Lys282Glu
ENST00000505590.5:c.901A>G ENSP00000425416.1:p.Lys301Glu
ENST00000506705.5:c.*818A>G ENSP00000426667.1:n.*818A>G
ENST00000508393.5:c.901A>G ENSP00000424630.1:p.Lys301Glu
ENST00000509471.5:c.334-612A>G ENSP00000424583.1:n.334-612A>G
ENST00000629236.2:c.844A>G ENSP00000486450.1:p.Lys282Glu
NM_000670.3:c.844A>G NP_000661.2:p.Lys282Glu
NM_000670.4:c.844A>G NP_000661.2:p.Lys282Glu
NM_001306171.1:c.901A>G NP_001293100.1:p.Lys301Glu
NM_001306172.1:c.901A>G NP_001293101.1:p.Lys301Glu
NR_037884.1:n.429-6211T>C
XR_938685.1:n.1072A>G
XR_938686.1:n.1063A>G
XR_938687.1:n.936A>G
NM_000670.5:c.844A>G MANE Select NP_000661.2:p.Lys282Glu
NM_001306171.2:c.901A>G NP_001293100.1:p.Lys301Glu
NM_001306172.2:c.901A>G NP_001293101.1:p.Lys301Glu