Canonical Allele Identifier: CA357479808
Gene: ADH4 HGNC NCBI

Linked Data

gnomAD v4: 4-99127284-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99127284C>G , CM000666.2:g.99127284C>G GRCh38
NC_000004.11:g.100048435C>G , CM000666.1:g.100048435C>G GRCh37
NC_000004.10:g.100267458C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000265512.12:c.904G>C MANE Select ENSP00000265512.7:p.Ala302Pro
ENST00000265512.11:c.904G>C ENSP00000265512.7:p.Ala302Pro
ENST00000505590.5:c.961G>C ENSP00000425416.1:p.Ala321Pro
ENST00000506705.5:c.*878G>C ENSP00000426667.1:n.*878G>C
ENST00000508393.5:c.961G>C ENSP00000424630.1:p.Ala321Pro
ENST00000509471.5:c.334-552G>C ENSP00000424583.1:n.334-552G>C
ENST00000629236.2:c.904G>C ENSP00000486450.1:p.Ala302Pro
NM_000670.3:c.904G>C NP_000661.2:p.Ala302Pro
NM_000670.4:c.904G>C NP_000661.2:p.Ala302Pro
NM_001306171.1:c.961G>C NP_001293100.1:p.Ala321Pro
NM_001306172.1:c.961G>C NP_001293101.1:p.Ala321Pro
NR_037884.1:n.429-6271C>G
XR_938685.1:n.1132G>C
XR_938686.1:n.1123G>C
XR_938687.1:n.996G>C
NM_000670.5:c.904G>C MANE Select NP_000661.2:p.Ala302Pro
NM_001306171.2:c.961G>C NP_001293100.1:p.Ala321Pro
NM_001306172.2:c.961G>C NP_001293101.1:p.Ala321Pro