Canonical Allele Identifier: CA440305449

Gene: ADH4

Linked Data

• dbSNP Id: rs1269331556
• gnomAD v2: 4-100048490-T-G
• gnomAD v4: 4-99127339-T-G
• MyVariant Identifiers: chr4:g.100048490T>G (hg19) ; chr4:g.99127339T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127339T>G , CM000666.2:g.99127339T>G	GRCh38
NC_000004.11:g.100048490T>G , CM000666.1:g.100048490T>G	GRCh37
NC_000004.10:g.100267513T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.849A>C MANE Select	ENSP00000265512.7:p.Ala283=
ENST00000265512.11:c.849A>C	ENSP00000265512.7:p.Ala283=
ENST00000505590.5:c.906A>C	ENSP00000425416.1:p.Ala302=
ENST00000506705.5:c.*823A>C	ENSP00000426667.1:n.*823A>C
ENST00000508393.5:c.906A>C	ENSP00000424630.1:p.Ala302=
ENST00000509471.5:c.334-607A>C	ENSP00000424583.1:n.334-607A>C
ENST00000629236.2:c.849A>C	ENSP00000486450.1:p.Ala283=
NM_000670.3:c.849A>C	NP_000661.2:p.Ala283=
NM_000670.4:c.849A>C	NP_000661.2:p.Ala283=
NM_001306171.1:c.906A>C	NP_001293100.1:p.Ala302=
NM_001306172.1:c.906A>C	NP_001293101.1:p.Ala302=
NR_037884.1:n.429-6216T>G
XR_938685.1:n.1077A>C
XR_938686.1:n.1068A>C
XR_938687.1:n.941A>C
NM_000670.5:c.849A>C MANE Select	NP_000661.2:p.Ala283=
NM_001306171.2:c.906A>C	NP_001293100.1:p.Ala302=
NM_001306172.2:c.906A>C	NP_001293101.1:p.Ala302=