Canonical Allele Identifier: CA3018593
Gene: ADH4 HGNC NCBI

Linked Data

dbSNP Id: rs369669809
gnomAD v3: 4-99126581-A-G
gnomAD v4: 4-99126581-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99126581A>G , CM000666.2:g.99126581A>G GRCh38
NC_000004.11:g.100047732A>G , CM000666.1:g.100047732A>G GRCh37
NC_000004.10:g.100266755A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.1118+13T>C MANE Select ENSP00000265512.7:n.1118+13T>C
ENST00000265512.11:c.1118+13T>C ENSP00000265512.7:n.1118+13T>C
ENST00000505590.5:c.1175+13T>C ENSP00000425416.1:n.1175+13T>C
ENST00000508393.5:c.1175+13T>C ENSP00000424630.1:n.1175+13T>C
ENST00000509471.5:c.472+13T>C ENSP00000424583.1:n.472+13T>C
ENST00000629236.2:c.1118+13T>C ENSP00000486450.1:n.1118+13T>C
NM_000670.3:c.1118+13T>C NP_000661.2:n.1118+13T>C
NM_000670.4:c.1118+13T>C NP_000661.2:n.1118+13T>C
NM_001306171.1:c.1175+13T>C NP_001293100.1:n.1175+13T>C
NM_001306172.1:c.1175+13T>C NP_001293101.1:n.1175+13T>C
NR_037884.1:n.429-6974A>G
XR_938685.1:n.1346+13T>C
XR_938686.1:n.1337+13T>C
XR_938687.1:n.1210+13T>C
NM_000670.5:c.1118+13T>C MANE Select NP_000661.2:n.1118+13T>C
NM_001306171.2:c.1175+13T>C NP_001293100.1:n.1175+13T>C
NM_001306172.2:c.1175+13T>C NP_001293101.1:n.1175+13T>C