Canonical Allele Identifier: CA16604386
Gene: COLQ HGNC NCBI

Linked Data

ClinVar Variation Id: 381726
ClinVar RCV Id: RCV000426405
dbSNP Id: rs1057521153

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15456524A>G , CM000665.2:g.15456524A>G GRCh38
NC_000003.11:g.15498031A>G , CM000665.1:g.15498031A>G GRCh37
NC_000003.10:g.15473035A>G NCBI36
NG_009032.1:g.70228T>C
NG_009032.2:g.70228T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000383788.10:c.1010T>C MANE Select ENSP00000373298.3:p.Ile337Thr
ENST00000604401.2:n.866T>C
ENST00000679838.1:c.*772T>C ENSP00000505708.1:n.*772T>C
ENST00000680240.1:n.922T>C
ENST00000680545.1:n.776T>C
ENST00000681097.1:c.*24T>C ENSP00000505397.1:n.*24T>C
ENST00000681222.1:n.4501T>C
ENST00000383781.8:c.980T>C ENSP00000373291.3:p.Ile327Thr
ENST00000383786.9:c.908T>C ENSP00000373296.3:p.Ile303Thr
ENST00000383788.9:c.1010T>C ENSP00000373298.3:p.Ile337Thr
ENST00000603808.5:c.1010T>C ENSP00000474271.1:p.Ile337Thr
NM_005677.3:c.1010T>C NP_005668.2:p.Ile337Thr
NM_080538.2:c.980T>C NP_536799.1:p.Ile327Thr
NM_080539.3:c.908T>C NP_536800.2:p.Ile303Thr
NM_005677.4:c.1010T>C MANE Select NP_005668.2:p.Ile337Thr
NM_080539.4:c.908T>C NP_536800.2:p.Ile303Thr