Canonical Allele Identifier: CA1065906889
Gene: ADH4 HGNC NCBI

Linked Data

dbSNP Id: rs1729011395
gnomAD v3: 4-99124346-A-G
gnomAD v4: 4-99124346-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99124346A>G , CM000666.2:g.99124346A>G GRCh38
NC_000004.11:g.100045497A>G , CM000666.1:g.100045497A>G GRCh37
NC_000004.10:g.100264520A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.*96T>C MANE Select ENSP00000265512.7:n.*96T>C
ENST00000265512.11:c.*96T>C ENSP00000265512.7:n.*96T>C
ENST00000508393.5:c.*96T>C ENSP00000424630.1:n.*96T>C
ENST00000629236.2:c.*60T>C ENSP00000486450.1:n.*60T>C
NM_000670.3:c.*96T>C NP_000661.2:n.*96T>C
NM_000670.4:c.*96T>C NP_000661.2:n.*96T>C
NM_001306171.1:c.*96T>C NP_001293100.1:n.*96T>C
NM_001306172.1:c.*96T>C NP_001293101.1:n.*96T>C
NR_037884.1:n.429-9209A>G
XR_938685.1:n.1578T>C
XR_938686.1:n.1569T>C
XR_938687.1:n.1442T>C
NM_000670.5:c.*96T>C MANE Select NP_000661.2:n.*96T>C
NM_001306171.2:c.*96T>C NP_001293100.1:n.*96T>C
NM_001306172.2:c.*96T>C NP_001293101.1:n.*96T>C