Canonical Allele Identifier: CA1045358486

Gene: COLQ

Linked Data

• dbSNP Id: rs1204716434
• gnomAD v3: 3-15470415-G-C
• gnomAD v4: 3-15470415-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470415G>C , CM000665.2:g.15470415G>C	GRCh38
NC_000003.11:g.15511922G>C , CM000665.1:g.15511922G>C	GRCh37
NC_000003.10:g.15486926G>C	NCBI36
NG_009032.1:g.56337C>G
NG_009032.2:g.56337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.717+121C>G MANE Select	ENSP00000373298.3:n.717+121C>G
ENST00000604401.2:n.713+121C>G
ENST00000679838.1:c.*479+121C>G	ENSP00000505708.1:n.*479+121C>G
ENST00000680545.1:n.483+121C>G
ENST00000681097.1:c.717+121C>G	ENSP00000505397.1:n.717+121C>G
ENST00000383781.8:c.687+121C>G	ENSP00000373291.3:n.687+121C>G
ENST00000383786.9:c.615+121C>G	ENSP00000373296.3:n.615+121C>G
ENST00000383788.9:c.717+121C>G	ENSP00000373298.3:n.717+121C>G
ENST00000603808.5:c.717+121C>G	ENSP00000474271.1:n.717+121C>G
ENST00000605797.1:c.546+121C>G	ENSP00000474936.1:n.546+121C>G
NM_005677.3:c.717+121C>G	NP_005668.2:n.717+121C>G
NM_080538.2:c.687+121C>G	NP_536799.1:n.687+121C>G
NM_080539.3:c.615+121C>G	NP_536800.2:n.615+121C>G
NM_005677.4:c.717+121C>G MANE Select	NP_005668.2:n.717+121C>G
NM_080539.4:c.615+121C>G	NP_536800.2:n.615+121C>G