Canonical Allele Identifier: CA357478749

Gene: ADH4

Linked Data

• gnomAD v4: 4-99126593-C-A
• MyVariant Identifiers: chr4:g.100047744C>A (hg19) ; chr4:g.99126593C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99126593C>A , CM000666.2:g.99126593C>A	GRCh38
NC_000004.11:g.100047744C>A , CM000666.1:g.100047744C>A	GRCh37
NC_000004.10:g.100266767C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.1118+1G>T MANE Select	ENSP00000265512.7:n.1118+1G>T
ENST00000265512.11:c.1118+1G>T	ENSP00000265512.7:n.1118+1G>T
ENST00000505590.5:c.1175+1G>T	ENSP00000425416.1:n.1175+1G>T
ENST00000508393.5:c.1175+1G>T	ENSP00000424630.1:n.1175+1G>T
ENST00000509471.5:c.472+1G>T	ENSP00000424583.1:n.472+1G>T
ENST00000629236.2:c.1118+1G>T	ENSP00000486450.1:n.1118+1G>T
NM_000670.3:c.1118+1G>T	NP_000661.2:n.1118+1G>T
NM_000670.4:c.1118+1G>T	NP_000661.2:n.1118+1G>T
NM_001306171.1:c.1175+1G>T	NP_001293100.1:n.1175+1G>T
NM_001306172.1:c.1175+1G>T	NP_001293101.1:n.1175+1G>T
NR_037884.1:n.429-6962C>A
XR_938685.1:n.1346+1G>T
XR_938686.1:n.1337+1G>T
XR_938687.1:n.1210+1G>T
NM_000670.5:c.1118+1G>T MANE Select	NP_000661.2:n.1118+1G>T
NM_001306171.2:c.1175+1G>T	NP_001293100.1:n.1175+1G>T
NM_001306172.2:c.1175+1G>T	NP_001293101.1:n.1175+1G>T