Canonical Allele Identifier: CA357479520

Gene: ADH4

Linked Data

• gnomAD v4: 4-99126708-G-A
• MyVariant Identifiers: chr4:g.100047859G>A (hg19) ; chr4:g.99126708G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99126708G>A , CM000666.2:g.99126708G>A	GRCh38
NC_000004.11:g.100047859G>A , CM000666.1:g.100047859G>A	GRCh37
NC_000004.10:g.100266882G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.1004C>T MANE Select	ENSP00000265512.7:p.Pro335Leu
ENST00000265512.11:c.1004C>T	ENSP00000265512.7:p.Pro335Leu
ENST00000505590.5:c.1061C>T	ENSP00000425416.1:p.Pro354Leu
ENST00000506705.5:c.*978C>T	ENSP00000426667.1:n.*978C>T
ENST00000508393.5:c.1061C>T	ENSP00000424630.1:p.Pro354Leu
ENST00000509471.5:c.358C>T	ENSP00000424583.1:n.358C>T
ENST00000629236.2:c.1004C>T	ENSP00000486450.1:p.Pro335Leu
NM_000670.3:c.1004C>T	NP_000661.2:p.Pro335Leu
NM_000670.4:c.1004C>T	NP_000661.2:p.Pro335Leu
NM_001306171.1:c.1061C>T	NP_001293100.1:p.Pro354Leu
NM_001306172.1:c.1061C>T	NP_001293101.1:p.Pro354Leu
NR_037884.1:n.429-6847G>A
XR_938685.1:n.1232C>T
XR_938686.1:n.1223C>T
XR_938687.1:n.1096C>T
NM_000670.5:c.1004C>T MANE Select	NP_000661.2:p.Pro335Leu
NM_001306171.2:c.1061C>T	NP_001293100.1:p.Pro354Leu
NM_001306172.2:c.1061C>T	NP_001293101.1:p.Pro354Leu