Canonical Allele Identifier: CA351597514

Gene: COLQ

Linked Data

• dbSNP Id: rs2062199555
• MyVariant Identifiers: chr3:g.15507856G>C (hg19) ; chr3:g.15466349G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466349G>C , CM000665.2:g.15466349G>C	GRCh38
NC_000003.11:g.15507856G>C , CM000665.1:g.15507856G>C	GRCh37
NC_000003.10:g.15482860G>C	NCBI36
NG_009032.1:g.60403C>G
NG_009032.2:g.60403C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.806C>G MANE Select	ENSP00000373298.3:p.Pro269Arg
ENST00000604401.2:n.802C>G
ENST00000679838.1:c.*568C>G	ENSP00000505708.1:n.*568C>G
ENST00000680545.1:n.572C>G
ENST00000681097.1:c.806C>G	ENSP00000505397.1:p.Pro269Arg
ENST00000383781.8:c.776C>G	ENSP00000373291.3:p.Pro259Arg
ENST00000383786.9:c.704C>G	ENSP00000373296.3:p.Pro235Arg
ENST00000383788.9:c.806C>G	ENSP00000373298.3:p.Pro269Arg
ENST00000603808.5:c.806C>G	ENSP00000474271.1:p.Pro269Arg
NM_005677.3:c.806C>G	NP_005668.2:p.Pro269Arg
NM_080538.2:c.776C>G	NP_536799.1:p.Pro259Arg
NM_080539.3:c.704C>G	NP_536800.2:p.Pro235Arg
NM_005677.4:c.806C>G MANE Select	NP_005668.2:p.Pro269Arg
NM_080539.4:c.704C>G	NP_536800.2:p.Pro235Arg