Canonical Allele Identifier: CA3018619

Gene: ADH4

Linked Data

• dbSNP Id: rs376222749
• ExAC: 4:100047847 G / C
• gnomAD v2: 4-100047847-G-C
• gnomAD v3: 4-99126696-G-C
• gnomAD v4: 4-99126696-G-C
• MyVariant Identifiers: chr4:g.100047847G>C (hg19) ; chr4:g.99126696G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99126696G>C , CM000666.2:g.99126696G>C	GRCh38
NC_000004.11:g.100047847G>C , CM000666.1:g.100047847G>C	GRCh37
NC_000004.10:g.100266870G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000265512.12:c.1016C>G MANE Select	ENSP00000265512.7:p.Thr339Ser
ENST00000265512.11:c.1016C>G	ENSP00000265512.7:p.Thr339Ser
ENST00000505590.5:c.1073C>G	ENSP00000425416.1:p.Thr358Ser
ENST00000506705.5:c.*990C>G	ENSP00000426667.1:n.*990C>G
ENST00000508393.5:c.1073C>G	ENSP00000424630.1:p.Thr358Ser
ENST00000509471.5:c.370C>G	ENSP00000424583.1:n.370C>G
ENST00000629236.2:c.1016C>G	ENSP00000486450.1:p.Thr339Ser
NM_000670.3:c.1016C>G	NP_000661.2:p.Thr339Ser
NM_000670.4:c.1016C>G	NP_000661.2:p.Thr339Ser
NM_001306171.1:c.1073C>G	NP_001293100.1:p.Thr358Ser
NM_001306172.1:c.1073C>G	NP_001293101.1:p.Thr358Ser
NR_037884.1:n.429-6859G>C
XR_938685.1:n.1244C>G
XR_938686.1:n.1235C>G
XR_938687.1:n.1108C>G
NM_000670.5:c.1016C>G MANE Select	NP_000661.2:p.Thr339Ser
NM_001306171.2:c.1073C>G	NP_001293100.1:p.Thr358Ser
NM_001306172.2:c.1073C>G	NP_001293101.1:p.Thr358Ser