Canonical Allele Identifier: CA351597576

Gene: COLQ

Linked Data

• gnomAD v4: 3-15466380-G-T
• MyVariant Identifiers: chr3:g.15507887G>T (hg19) ; chr3:g.15466380G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466380G>T , CM000665.2:g.15466380G>T	GRCh38
NC_000003.11:g.15507887G>T , CM000665.1:g.15507887G>T	GRCh37
NC_000003.10:g.15482891G>T	NCBI36
NG_009032.1:g.60372C>A
NG_009032.2:g.60372C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.775C>A MANE Select	ENSP00000373298.3:p.Gln259Lys
ENST00000604401.2:n.771C>A
ENST00000679838.1:c.*537C>A	ENSP00000505708.1:n.*537C>A
ENST00000680545.1:n.541C>A
ENST00000681097.1:c.775C>A	ENSP00000505397.1:p.Gln259Lys
ENST00000383781.8:c.745C>A	ENSP00000373291.3:p.Gln249Lys
ENST00000383786.9:c.673C>A	ENSP00000373296.3:p.Gln225Lys
ENST00000383788.9:c.775C>A	ENSP00000373298.3:p.Gln259Lys
ENST00000603808.5:c.775C>A	ENSP00000474271.1:p.Gln259Lys
NM_005677.3:c.775C>A	NP_005668.2:p.Gln259Lys
NM_080538.2:c.745C>A	NP_536799.1:p.Gln249Lys
NM_080539.3:c.673C>A	NP_536800.2:p.Gln225Lys
NM_005677.4:c.775C>A MANE Select	NP_005668.2:p.Gln259Lys
NM_080539.4:c.673C>A	NP_536800.2:p.Gln225Lys