Canonical Allele Identifier: CA8309189
Gene: CXCL16 HGNC NCBI
COSMIC:
COSM4985326 (not active)
COSM4985327 (not active)
MyVariant.info:
GRCh38 chr17:g.4735268G>A
GRCh37 chr17:g.4638563G>A
Revel Score:
ENST00000293778 (MANE Select) 0.018
gnomAD v2:
17:4638563 G / A
gnomAD v3:
17:4735268 G / A
gnomAD v4:
chr17-4735268-G-A
Joint Max Group AF 0.5719354 (EAS)
Genomes Max Group AF 0.57584992 (EAS)
Exomes Max Group AF 0.56955396 (EAS)
dbSNP:
2277680
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4735268G>A , CM000679.2:g.4735268G>A GRCh38
NC_000017.10:g.4638563G>A , CM000679.1:g.4638563G>A GRCh37
NC_000017.9:g.4585312G>A NCBI36
NG_034160.1:g.254G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293778.12:c.542C>T MANE Select ENSP00000293778.7:p.Ala181Val
ENST00000574412.6:c.542C>T ENSP00000459592.2:p.Ala181Val
ENST00000293778.10:c.599C>T ENSP00000293778.6:p.Ala200Val
ENST00000574412.5:c.599C>T ENSP00000459592.1:p.Ala200Val
ENST00000575168.1:n.373C>T
ENST00000576153.5:n.333C>T
NM_001100812.1:c.599C>T NP_001094282.1:p.Ala200Val
NM_022059.3:c.599C>T NP_071342.2:p.Ala200Val
NM_022059.4:c.599C>T NP_071342.2:p.Ala200Val
NM_001100812.2:c.542C>T NP_001094282.2:p.Ala181Val
NM_001386809.1:c.542C>T MANE Select NP_001373738.1:p.Ala181Val
Search 100 bp 5'
Search 100 bp 3'