Canonical Allele Identifier: CA101603075
Gene: ADH4 HGNC NCBI

Linked Data

dbSNP Id: rs930904195
gnomAD v3: 4-99127302-T-C
gnomAD v4: 4-99127302-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99127302T>C , CM000666.2:g.99127302T>C GRCh38
NC_000004.11:g.100048453T>C , CM000666.1:g.100048453T>C GRCh37
NC_000004.10:g.100267476T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.886A>G MANE Select ENSP00000265512.7:p.Thr296Ala
ENST00000265512.11:c.886A>G ENSP00000265512.7:p.Thr296Ala
ENST00000505590.5:c.943A>G ENSP00000425416.1:p.Thr315Ala
ENST00000506705.5:c.*860A>G ENSP00000426667.1:n.*860A>G
ENST00000508393.5:c.943A>G ENSP00000424630.1:p.Thr315Ala
ENST00000509471.5:c.334-570A>G ENSP00000424583.1:n.334-570A>G
ENST00000629236.2:c.886A>G ENSP00000486450.1:p.Thr296Ala
NM_000670.3:c.886A>G NP_000661.2:p.Thr296Ala
NM_000670.4:c.886A>G NP_000661.2:p.Thr296Ala
NM_001306171.1:c.943A>G NP_001293100.1:p.Thr315Ala
NM_001306172.1:c.943A>G NP_001293101.1:p.Thr315Ala
NR_037884.1:n.429-6253T>C
XR_938685.1:n.1114A>G
XR_938686.1:n.1105A>G
XR_938687.1:n.978A>G
NM_000670.5:c.886A>G MANE Select NP_000661.2:p.Thr296Ala
NM_001306171.2:c.943A>G NP_001293100.1:p.Thr315Ala
NM_001306172.2:c.943A>G NP_001293101.1:p.Thr315Ala