Canonical Allele Identifier: CA351598128

Gene: COLQ

Linked Data

• gnomAD v4: 3-15470603-G-C
• MyVariant Identifiers: chr3:g.15512110G>C (hg19) ; chr3:g.15470603G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470603G>C , CM000665.2:g.15470603G>C	GRCh38
NC_000003.11:g.15512110G>C , CM000665.1:g.15512110G>C	GRCh37
NC_000003.10:g.15487114G>C	NCBI36
NG_009032.1:g.56149C>G
NG_009032.2:g.56149C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.650C>G MANE Select	ENSP00000373298.3:p.Pro217Arg
ENST00000604401.2:n.646C>G
ENST00000679838.1:c.*412C>G	ENSP00000505708.1:n.*412C>G
ENST00000680545.1:n.416C>G
ENST00000681097.1:c.650C>G	ENSP00000505397.1:p.Pro217Arg
ENST00000383781.8:c.620C>G	ENSP00000373291.3:p.Pro207Arg
ENST00000383786.9:c.548C>G	ENSP00000373296.3:p.Pro183Arg
ENST00000383788.9:c.650C>G	ENSP00000373298.3:p.Pro217Arg
ENST00000603808.5:c.650C>G	ENSP00000474271.1:p.Pro217Arg
ENST00000605797.1:c.479C>G	ENSP00000474936.1:p.Pro160Arg
NM_005677.3:c.650C>G	NP_005668.2:p.Pro217Arg
NM_080538.2:c.620C>G	NP_536799.1:p.Pro207Arg
NM_080539.3:c.548C>G	NP_536800.2:p.Pro183Arg
NM_005677.4:c.650C>G MANE Select	NP_005668.2:p.Pro217Arg
NM_080539.4:c.548C>G	NP_536800.2:p.Pro183Arg