Canonical Allele Identifier: CA432642390

Gene: COLQ

Linked Data

• gnomAD v4: 3-15466360-G-A
• MyVariant Identifiers: chr3:g.15507867G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466360G>A , CM000665.2:g.15466360G>A	GRCh38
NC_000003.11:g.15507867G>A , CM000665.1:g.15507867G>A	GRCh37
NC_000003.10:g.15482871G>A	NCBI36
NG_009032.1:g.60392C>T
NG_009032.2:g.60392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.795C>T MANE Select	ENSP00000373298.3:p.Pro265=
ENST00000604401.2:n.791C>T
ENST00000679838.1:c.*557C>T	ENSP00000505708.1:n.*557C>T
ENST00000680545.1:n.561C>T
ENST00000681097.1:c.795C>T	ENSP00000505397.1:p.Pro265=
ENST00000383781.8:c.765C>T	ENSP00000373291.3:p.Pro255=
ENST00000383786.9:c.693C>T	ENSP00000373296.3:p.Pro231=
ENST00000383788.9:c.795C>T	ENSP00000373298.3:p.Pro265=
ENST00000603808.5:c.795C>T	ENSP00000474271.1:p.Pro265=
NM_005677.3:c.795C>T	NP_005668.2:p.Pro265=
NM_080538.2:c.765C>T	NP_536799.1:p.Pro255=
NM_080539.3:c.693C>T	NP_536800.2:p.Pro231=
NM_005677.4:c.795C>T MANE Select	NP_005668.2:p.Pro265=
NM_080539.4:c.693C>T	NP_536800.2:p.Pro231=