Canonical Allele Identifier: CA351598076

Gene: COLQ

Linked Data

• gnomAD v4: 3-15470591-G-T
• MyVariant Identifiers: chr3:g.15512098G>T (hg19) ; chr3:g.15470591G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470591G>T , CM000665.2:g.15470591G>T	GRCh38
NC_000003.11:g.15512098G>T , CM000665.1:g.15512098G>T	GRCh37
NC_000003.10:g.15487102G>T	NCBI36
NG_009032.1:g.56161C>A
NG_009032.2:g.56161C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.662C>A MANE Select	ENSP00000373298.3:p.Pro221His
ENST00000604401.2:n.658C>A
ENST00000679838.1:c.*424C>A	ENSP00000505708.1:n.*424C>A
ENST00000680545.1:n.428C>A
ENST00000681097.1:c.662C>A	ENSP00000505397.1:p.Pro221His
ENST00000383781.8:c.632C>A	ENSP00000373291.3:p.Pro211His
ENST00000383786.9:c.560C>A	ENSP00000373296.3:p.Pro187His
ENST00000383788.9:c.662C>A	ENSP00000373298.3:p.Pro221His
ENST00000603808.5:c.662C>A	ENSP00000474271.1:p.Pro221His
ENST00000605797.1:c.491C>A	ENSP00000474936.1:p.Pro164His
NM_005677.3:c.662C>A	NP_005668.2:p.Pro221His
NM_080538.2:c.632C>A	NP_536799.1:p.Pro211His
NM_080539.3:c.560C>A	NP_536800.2:p.Pro187His
NM_005677.4:c.662C>A MANE Select	NP_005668.2:p.Pro221His
NM_080539.4:c.560C>A	NP_536800.2:p.Pro187His