Canonical Allele Identifier: CA432643407

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512073G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470566G>C , CM000665.2:g.15470566G>C	GRCh38
NC_000003.11:g.15512073G>C , CM000665.1:g.15512073G>C	GRCh37
NC_000003.10:g.15487077G>C	NCBI36
NG_009032.1:g.56186C>G
NG_009032.2:g.56186C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.687C>G MANE Select	ENSP00000373298.3:p.Pro229=
ENST00000604401.2:n.683C>G
ENST00000679838.1:c.*449C>G	ENSP00000505708.1:n.*449C>G
ENST00000680545.1:n.453C>G
ENST00000681097.1:c.687C>G	ENSP00000505397.1:p.Pro229=
ENST00000383781.8:c.657C>G	ENSP00000373291.3:p.Pro219=
ENST00000383786.9:c.585C>G	ENSP00000373296.3:p.Pro195=
ENST00000383788.9:c.687C>G	ENSP00000373298.3:p.Pro229=
ENST00000603808.5:c.687C>G	ENSP00000474271.1:p.Pro229=
ENST00000605797.1:c.516C>G	ENSP00000474936.1:p.Pro172=
NM_005677.3:c.687C>G	NP_005668.2:p.Pro229=
NM_080538.2:c.657C>G	NP_536799.1:p.Pro219=
NM_080539.3:c.585C>G	NP_536800.2:p.Pro195=
NM_005677.4:c.687C>G MANE Select	NP_005668.2:p.Pro229=
NM_080539.4:c.585C>G	NP_536800.2:p.Pro195=