Canonical Allele Identifier: CA3018559

Gene: ADH4

Linked Data

• dbSNP Id: rs201456450
• ExAC: 4:100045545 G / A
• gnomAD v2: 4-100045545-G-A
• gnomAD v3: 4-99124394-G-A
• gnomAD v4: 4-99124394-G-A
• MyVariant Identifiers: chr4:g.100045545G>A (hg19) ; chr4:g.99124394G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99124394G>A , CM000666.2:g.99124394G>A	GRCh38
NC_000004.11:g.100045545G>A , CM000666.1:g.100045545G>A	GRCh37
NC_000004.10:g.100264568G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.*48C>T MANE Select	ENSP00000265512.7:n.*48C>T
ENST00000265512.11:c.*48C>T	ENSP00000265512.7:n.*48C>T
ENST00000505590.5:c.*48C>T	ENSP00000425416.1:n.*48C>T
ENST00000508393.5:c.*48C>T	ENSP00000424630.1:n.*48C>T
ENST00000509471.5:c.545C>T	ENSP00000424583.1:n.545C>T
ENST00000629236.2:c.*12C>T	ENSP00000486450.1:n.*12C>T
NM_000670.3:c.*48C>T	NP_000661.2:n.*48C>T
NM_000670.4:c.*48C>T	NP_000661.2:n.*48C>T
NM_001306171.1:c.*48C>T	NP_001293100.1:n.*48C>T
NM_001306172.1:c.*48C>T	NP_001293101.1:n.*48C>T
NR_037884.1:n.429-9161G>A
XR_938685.1:n.1530C>T
XR_938686.1:n.1521C>T
XR_938687.1:n.1394C>T
NM_000670.5:c.*48C>T MANE Select	NP_000661.2:n.*48C>T
NM_001306171.2:c.*48C>T	NP_001293100.1:n.*48C>T
NM_001306172.2:c.*48C>T	NP_001293101.1:n.*48C>T