Canonical Allele Identifier: CA357478568
Gene: ADH4 HGNC NCBI

Linked Data

gnomAD v4: 4-99124455-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99124455A>G , CM000666.2:g.99124455A>G GRCh38
NC_000004.11:g.100045606A>G , CM000666.1:g.100045606A>G GRCh37
NC_000004.10:g.100264629A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.1130T>C MANE Select ENSP00000265512.7:p.Ile377Thr
ENST00000265512.11:c.1130T>C ENSP00000265512.7:p.Ile377Thr
ENST00000505590.5:c.1187T>C ENSP00000425416.1:p.Ile396Thr
ENST00000508393.5:c.1187T>C ENSP00000424630.1:p.Ile396Thr
ENST00000509471.5:c.484T>C ENSP00000424583.1:n.484T>C
ENST00000629236.2:c.1130T>C ENSP00000486450.1:p.Ile377Thr
NM_000670.3:c.1130T>C NP_000661.2:p.Ile377Thr
NM_000670.4:c.1130T>C NP_000661.2:p.Ile377Thr
NM_001306171.1:c.1187T>C NP_001293100.1:p.Ile396Thr
NM_001306172.1:c.1187T>C NP_001293101.1:p.Ile396Thr
NR_037884.1:n.429-9100A>G
XR_938685.1:n.1469T>C
XR_938686.1:n.1460T>C
XR_938687.1:n.1333T>C
NM_000670.5:c.1130T>C MANE Select NP_000661.2:p.Ile377Thr
NM_001306171.2:c.1187T>C NP_001293100.1:p.Ile396Thr
NM_001306172.2:c.1187T>C NP_001293101.1:p.Ile396Thr