Canonical Allele Identifier: CA432642618

Gene: COLQ

Linked Data

• gnomAD v4: 3-15466408-G-A
• MyVariant Identifiers: chr3:g.15507915G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466408G>A , CM000665.2:g.15466408G>A	GRCh38
NC_000003.11:g.15507915G>A , CM000665.1:g.15507915G>A	GRCh37
NC_000003.10:g.15482919G>A	NCBI36
NG_009032.1:g.60344C>T
NG_009032.2:g.60344C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.747C>T MANE Select	ENSP00000373298.3:p.Gly249=
ENST00000604401.2:n.743C>T
ENST00000679838.1:c.*509C>T	ENSP00000505708.1:n.*509C>T
ENST00000680545.1:n.513C>T
ENST00000681097.1:c.747C>T	ENSP00000505397.1:p.Gly249=
ENST00000383781.8:c.717C>T	ENSP00000373291.3:p.Gly239=
ENST00000383786.9:c.645C>T	ENSP00000373296.3:p.Gly215=
ENST00000383788.9:c.747C>T	ENSP00000373298.3:p.Gly249=
ENST00000603808.5:c.747C>T	ENSP00000474271.1:p.Gly249=
ENST00000605797.1:c.576C>T	ENSP00000474936.1:p.Gly192=
NM_005677.3:c.747C>T	NP_005668.2:p.Gly249=
NM_080538.2:c.717C>T	NP_536799.1:p.Gly239=
NM_080539.3:c.645C>T	NP_536800.2:p.Gly215=
NM_005677.4:c.747C>T MANE Select	NP_005668.2:p.Gly249=
NM_080539.4:c.645C>T	NP_536800.2:p.Gly215=