Canonical Allele Identifier: CA553095787

Gene: ADH4

Linked Data

• dbSNP Id: rs1361067182
• gnomAD v2: 4-100045560-A-G
• gnomAD v3: 4-99124409-A-G
• gnomAD v4: 4-99124409-A-G
• MyVariant Identifiers: chr4:g.100045560A>G (hg19) ; chr4:g.99124409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99124409A>G , CM000666.2:g.99124409A>G	GRCh38
NC_000004.11:g.100045560A>G , CM000666.1:g.100045560A>G	GRCh37
NC_000004.10:g.100264583A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.*33T>C MANE Select	ENSP00000265512.7:n.*33T>C
ENST00000265512.11:c.*33T>C	ENSP00000265512.7:n.*33T>C
ENST00000505590.5:c.*33T>C	ENSP00000425416.1:n.*33T>C
ENST00000508393.5:c.*33T>C	ENSP00000424630.1:n.*33T>C
ENST00000509471.5:c.530T>C	ENSP00000424583.1:n.530T>C
ENST00000629236.2:c.1173T>C	ENSP00000486450.1:p.Asp391=
NM_000670.3:c.*33T>C	NP_000661.2:n.*33T>C
NM_000670.4:c.*33T>C	NP_000661.2:n.*33T>C
NM_001306171.1:c.*33T>C	NP_001293100.1:n.*33T>C
NM_001306172.1:c.*33T>C	NP_001293101.1:n.*33T>C
NR_037884.1:n.429-9146A>G
XR_938685.1:n.1515T>C
XR_938686.1:n.1506T>C
XR_938687.1:n.1379T>C
NM_000670.5:c.*33T>C MANE Select	NP_000661.2:n.*33T>C
NM_001306171.2:c.*33T>C	NP_001293100.1:n.*33T>C
NM_001306172.2:c.*33T>C	NP_001293101.1:n.*33T>C