Canonical Allele Identifier: CA357478492

Gene: ADH4

Linked Data

• dbSNP Id: rs1190269624
• gnomAD v2: 4-100045592-T-C
• gnomAD v3: 4-99124441-T-C
• gnomAD v4: 4-99124441-T-C
• MyVariant Identifiers: chr4:g.100045592T>C (hg19) ; chr4:g.99124441T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99124441T>C , CM000666.2:g.99124441T>C	GRCh38
NC_000004.11:g.100045592T>C , CM000666.1:g.100045592T>C	GRCh37
NC_000004.10:g.100264615T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.*1A>G MANE Select	ENSP00000265512.7:n.*1A>G
ENST00000265512.11:c.*1A>G	ENSP00000265512.7:n.*1A>G
ENST00000505590.5:c.*1A>G	ENSP00000425416.1:n.*1A>G
ENST00000508393.5:c.*1A>G	ENSP00000424630.1:n.*1A>G
ENST00000509471.5:c.498A>G	ENSP00000424583.1:n.498A>G
ENST00000629236.2:c.1141A>G	ENSP00000486450.1:p.Arg381Gly
NM_000670.3:c.*1A>G	NP_000661.2:n.*1A>G
NM_000670.4:c.*1A>G	NP_000661.2:n.*1A>G
NM_001306171.1:c.*1A>G	NP_001293100.1:n.*1A>G
NM_001306172.1:c.*1A>G	NP_001293101.1:n.*1A>G
NR_037884.1:n.429-9114T>C
XR_938685.1:n.1483A>G
XR_938686.1:n.1474A>G
XR_938687.1:n.1347A>G
NM_000670.5:c.*1A>G MANE Select	NP_000661.2:n.*1A>G
NM_001306171.2:c.*1A>G	NP_001293100.1:n.*1A>G
NM_001306172.2:c.*1A>G	NP_001293101.1:n.*1A>G