Canonical Allele Identifier: CA3018618
Gene: ADH4 HGNC NCBI

Linked Data

dbSNP Id: rs112696230
gnomAD v3: 4-99126695-A-G
gnomAD v4: 4-99126695-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99126695A>G , CM000666.2:g.99126695A>G GRCh38
NC_000004.11:g.100047846A>G , CM000666.1:g.100047846A>G GRCh37
NC_000004.10:g.100266869A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.1017T>C MANE Select ENSP00000265512.7:p.Thr339=
ENST00000265512.11:c.1017T>C ENSP00000265512.7:p.Thr339=
ENST00000505590.5:c.1074T>C ENSP00000425416.1:p.Thr358=
ENST00000506705.5:c.*991T>C ENSP00000426667.1:n.*991T>C
ENST00000508393.5:c.1074T>C ENSP00000424630.1:p.Thr358=
ENST00000509471.5:c.371T>C ENSP00000424583.1:n.371T>C
ENST00000629236.2:c.1017T>C ENSP00000486450.1:p.Thr339=
NM_000670.3:c.1017T>C NP_000661.2:p.Thr339=
NM_000670.4:c.1017T>C NP_000661.2:p.Thr339=
NM_001306171.1:c.1074T>C NP_001293100.1:p.Thr358=
NM_001306172.1:c.1074T>C NP_001293101.1:p.Thr358=
NR_037884.1:n.429-6860A>G
XR_938685.1:n.1245T>C
XR_938686.1:n.1236T>C
XR_938687.1:n.1109T>C
NM_000670.5:c.1017T>C MANE Select NP_000661.2:p.Thr339=
NM_001306171.2:c.1074T>C NP_001293100.1:p.Thr358=
NM_001306172.2:c.1074T>C NP_001293101.1:p.Thr358=