Canonical Allele Identifier: CA357480177

Gene: ADH4

Linked Data

• MyVariant Identifiers: chr4:g.100048485A>C (hg19) ; chr4:g.99127334A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127334A>C , CM000666.2:g.99127334A>C	GRCh38
NC_000004.11:g.100048485A>C , CM000666.1:g.100048485A>C	GRCh37
NC_000004.10:g.100267508A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.854T>G MANE Select	ENSP00000265512.7:p.Leu285Arg
ENST00000265512.11:c.854T>G	ENSP00000265512.7:p.Leu285Arg
ENST00000505590.5:c.911T>G	ENSP00000425416.1:p.Leu304Arg
ENST00000506705.5:c.*828T>G	ENSP00000426667.1:n.*828T>G
ENST00000508393.5:c.911T>G	ENSP00000424630.1:p.Leu304Arg
ENST00000509471.5:c.334-602T>G	ENSP00000424583.1:n.334-602T>G
ENST00000629236.2:c.854T>G	ENSP00000486450.1:p.Leu285Arg
NM_000670.3:c.854T>G	NP_000661.2:p.Leu285Arg
NM_000670.4:c.854T>G	NP_000661.2:p.Leu285Arg
NM_001306171.1:c.911T>G	NP_001293100.1:p.Leu304Arg
NM_001306172.1:c.911T>G	NP_001293101.1:p.Leu304Arg
NR_037884.1:n.429-6221A>C
XR_938685.1:n.1082T>G
XR_938686.1:n.1073T>G
XR_938687.1:n.946T>G
NM_000670.5:c.854T>G MANE Select	NP_000661.2:p.Leu285Arg
NM_001306171.2:c.911T>G	NP_001293100.1:p.Leu304Arg
NM_001306172.2:c.911T>G	NP_001293101.1:p.Leu304Arg