Canonical Allele Identifier: CA3018570

Gene: ADH4

Linked Data

• dbSNP Id: rs551046678
• ExAC: 4:100045603 A / T
• gnomAD v2: 4-100045603-A-T
• gnomAD v3: 4-99124452-A-T
• gnomAD v4: 4-99124452-A-T
• MyVariant Identifiers: chr4:g.100045603A>T (hg19) ; chr4:g.99124452A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99124452A>T , CM000666.2:g.99124452A>T	GRCh38
NC_000004.11:g.100045603A>T , CM000666.1:g.100045603A>T	GRCh37
NC_000004.10:g.100264626A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.1133T>A MANE Select	ENSP00000265512.7:p.Leu378His
ENST00000265512.11:c.1133T>A	ENSP00000265512.7:p.Leu378His
ENST00000505590.5:c.1190T>A	ENSP00000425416.1:p.Leu397His
ENST00000508393.5:c.1190T>A	ENSP00000424630.1:p.Leu397His
ENST00000509471.5:c.487T>A	ENSP00000424583.1:n.487T>A
ENST00000629236.2:c.1133T>A	ENSP00000486450.1:p.Leu378His
NM_000670.3:c.1133T>A	NP_000661.2:p.Leu378His
NM_000670.4:c.1133T>A	NP_000661.2:p.Leu378His
NM_001306171.1:c.1190T>A	NP_001293100.1:p.Leu397His
NM_001306172.1:c.1190T>A	NP_001293101.1:p.Leu397His
NR_037884.1:n.429-9103A>T
XR_938685.1:n.1472T>A
XR_938686.1:n.1463T>A
XR_938687.1:n.1336T>A
NM_000670.5:c.1133T>A MANE Select	NP_000661.2:p.Leu378His
NM_001306171.2:c.1190T>A	NP_001293100.1:p.Leu397His
NM_001306172.2:c.1190T>A	NP_001293101.1:p.Leu397His