Canonical Allele Identifier: CA357479729

Gene: ADH4

Linked Data

• MyVariant Identifiers: chr4:g.100048398A>T (hg19) ; chr4:g.99127247A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127247A>T , CM000666.2:g.99127247A>T	GRCh38
NC_000004.11:g.100048398A>T , CM000666.1:g.100048398A>T	GRCh37
NC_000004.10:g.100267421A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.941T>A MANE Select	ENSP00000265512.7:p.Leu314Gln
ENST00000265512.11:c.941T>A	ENSP00000265512.7:p.Leu314Gln
ENST00000505590.5:c.998T>A	ENSP00000425416.1:p.Leu333Gln
ENST00000506705.5:c.*915T>A	ENSP00000426667.1:n.*915T>A
ENST00000508393.5:c.998T>A	ENSP00000424630.1:p.Leu333Gln
ENST00000509471.5:c.334-515T>A	ENSP00000424583.1:n.334-515T>A
ENST00000629236.2:c.941T>A	ENSP00000486450.1:p.Leu314Gln
NM_000670.3:c.941T>A	NP_000661.2:p.Leu314Gln
NM_000670.4:c.941T>A	NP_000661.2:p.Leu314Gln
NM_001306171.1:c.998T>A	NP_001293100.1:p.Leu333Gln
NM_001306172.1:c.998T>A	NP_001293101.1:p.Leu333Gln
NR_037884.1:n.429-6308A>T
XR_938685.1:n.1169T>A
XR_938686.1:n.1160T>A
XR_938687.1:n.1033T>A
NM_000670.5:c.941T>A MANE Select	NP_000661.2:p.Leu314Gln
NM_001306171.2:c.998T>A	NP_001293100.1:p.Leu333Gln
NM_001306172.2:c.998T>A	NP_001293101.1:p.Leu333Gln