Canonical Allele Identifier: CA351596619

Gene: COLQ

Linked Data

• ClinVar Variation Id: 2576519
• ClinVar RCV Id: RCV003322578
• dbSNP Id: rs2062019680
• MyVariant Identifiers: chr3:g.15497525A>C (hg19) ; chr3:g.15456018A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15456018A>C , CM000665.2:g.15456018A>C	GRCh38
NC_000003.11:g.15497525A>C , CM000665.1:g.15497525A>C	GRCh37
NC_000003.10:g.15472529A>C	NCBI36
NG_009032.1:g.70734T>G
NG_009032.2:g.70734T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.1076T>G MANE Select	ENSP00000373298.3:p.Leu359Arg
ENST00000604401.2:n.932T>G
ENST00000679838.1:c.*838T>G	ENSP00000505708.1:n.*838T>G
ENST00000680240.1:n.988T>G
ENST00000680545.1:n.842T>G
ENST00000681097.1:c.*90T>G	ENSP00000505397.1:n.*90T>G
ENST00000681222.1:n.4567T>G
ENST00000383781.8:c.1046T>G	ENSP00000373291.3:p.Leu349Arg
ENST00000383786.9:c.974T>G	ENSP00000373296.3:p.Leu325Arg
ENST00000383788.9:c.1076T>G	ENSP00000373298.3:p.Leu359Arg
ENST00000603808.5:c.1076T>G	ENSP00000474271.1:p.Leu359Arg
NM_005677.3:c.1076T>G	NP_005668.2:p.Leu359Arg
NM_080538.2:c.1046T>G	NP_536799.1:p.Leu349Arg
NM_080539.3:c.974T>G	NP_536800.2:p.Leu325Arg
NM_005677.4:c.1076T>G MANE Select	NP_005668.2:p.Leu359Arg
NM_080539.4:c.974T>G	NP_536800.2:p.Leu325Arg