Canonical Allele Identifier: CA3018655

Gene: ADH4

Linked Data

• dbSNP Id: rs747570796
• ExAC: 4:100048409 A / T
• gnomAD v2: 4-100048409-A-T
• gnomAD v4: 4-99127258-A-T
• MyVariant Identifiers: chr4:g.100048409A>T (hg19) ; chr4:g.99127258A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127258A>T , CM000666.2:g.99127258A>T	GRCh38
NC_000004.11:g.100048409A>T , CM000666.1:g.100048409A>T	GRCh37
NC_000004.10:g.100267432A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.930T>A MANE Select	ENSP00000265512.7:p.Phe310Leu
ENST00000265512.11:c.930T>A	ENSP00000265512.7:p.Phe310Leu
ENST00000505590.5:c.987T>A	ENSP00000425416.1:p.Phe329Leu
ENST00000506705.5:c.*904T>A	ENSP00000426667.1:n.*904T>A
ENST00000508393.5:c.987T>A	ENSP00000424630.1:p.Phe329Leu
ENST00000509471.5:c.334-526T>A	ENSP00000424583.1:n.334-526T>A
ENST00000629236.2:c.930T>A	ENSP00000486450.1:p.Phe310Leu
NM_000670.3:c.930T>A	NP_000661.2:p.Phe310Leu
NM_000670.4:c.930T>A	NP_000661.2:p.Phe310Leu
NM_001306171.1:c.987T>A	NP_001293100.1:p.Phe329Leu
NM_001306172.1:c.987T>A	NP_001293101.1:p.Phe329Leu
NR_037884.1:n.429-6297A>T
XR_938685.1:n.1158T>A
XR_938686.1:n.1149T>A
XR_938687.1:n.1022T>A
NM_000670.5:c.930T>A MANE Select	NP_000661.2:p.Phe310Leu
NM_001306171.2:c.987T>A	NP_001293100.1:p.Phe329Leu
NM_001306172.2:c.987T>A	NP_001293101.1:p.Phe329Leu