Canonical Allele Identifier: CA357479807
Gene: ADH4 HGNC NCBI

Linked Data

dbSNP Id: rs1407000999
gnomAD v3: 4-99127284-C-A
gnomAD v4: 4-99127284-C-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.904G>T MANE Select ENSP00000265512.7:p.Ala302Ser
ENST00000265512.11:c.904G>T ENSP00000265512.7:p.Ala302Ser
ENST00000505590.5:c.961G>T ENSP00000425416.1:p.Ala321Ser
ENST00000506705.5:c.*878G>T ENSP00000426667.1:n.*878G>T
ENST00000508393.5:c.961G>T ENSP00000424630.1:p.Ala321Ser
ENST00000509471.5:c.334-552G>T ENSP00000424583.1:n.334-552G>T
ENST00000629236.2:c.904G>T ENSP00000486450.1:p.Ala302Ser
NM_000670.3:c.904G>T NP_000661.2:p.Ala302Ser
NM_000670.4:c.904G>T NP_000661.2:p.Ala302Ser
NM_001306171.1:c.961G>T NP_001293100.1:p.Ala321Ser
NM_001306172.1:c.961G>T NP_001293101.1:p.Ala321Ser
NR_037884.1:n.429-6271C>A
XR_938685.1:n.1132G>T
XR_938686.1:n.1123G>T
XR_938687.1:n.996G>T
NM_000670.5:c.904G>T MANE Select NP_000661.2:p.Ala302Ser
NM_001306171.2:c.961G>T NP_001293100.1:p.Ala321Ser
NM_001306172.2:c.961G>T NP_001293101.1:p.Ala321Ser