Canonical Allele Identifier: CA351597876

Gene: COLQ

Linked Data

• gnomAD v4: 3-15470537-T-G
• MyVariant Identifiers: chr3:g.15512044T>G (hg19) ; chr3:g.15470537T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470537T>G , CM000665.2:g.15470537T>G	GRCh38
NC_000003.11:g.15512044T>G , CM000665.1:g.15512044T>G	GRCh37
NC_000003.10:g.15487048T>G	NCBI36
NG_009032.1:g.56215A>C
NG_009032.2:g.56215A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.716A>C MANE Select	ENSP00000373298.3:p.Gln239Pro
ENST00000604401.2:n.712A>C
ENST00000679838.1:c.*478A>C	ENSP00000505708.1:n.*478A>C
ENST00000680545.1:n.482A>C
ENST00000681097.1:c.716A>C	ENSP00000505397.1:p.Gln239Pro
ENST00000383781.8:c.686A>C	ENSP00000373291.3:p.Gln229Pro
ENST00000383786.9:c.614A>C	ENSP00000373296.3:p.Gln205Pro
ENST00000383788.9:c.716A>C	ENSP00000373298.3:p.Gln239Pro
ENST00000603808.5:c.716A>C	ENSP00000474271.1:p.Gln239Pro
ENST00000605797.1:c.545A>C	ENSP00000474936.1:p.Gln182Pro
NM_005677.3:c.716A>C	NP_005668.2:p.Gln239Pro
NM_080538.2:c.686A>C	NP_536799.1:p.Gln229Pro
NM_080539.3:c.614A>C	NP_536800.2:p.Gln205Pro
NM_005677.4:c.716A>C MANE Select	NP_005668.2:p.Gln239Pro
NM_080539.4:c.614A>C	NP_536800.2:p.Gln205Pro