Canonical Allele Identifier: CA351599539

Gene: COLQ

Linked Data

• ClinVar Variation Id: 1986219
• ClinVar RCV Id: RCV002786015
• dbSNP Id: rs1230299116
• gnomAD v2: 3-15520495-G-C
• gnomAD v4: 3-15478988-G-C
• MyVariant Identifiers: chr3:g.15520495G>C (hg19) ; chr3:g.15478988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478988G>C , CM000665.2:g.15478988G>C	GRCh38
NC_000003.11:g.15520495G>C , CM000665.1:g.15520495G>C	GRCh37
NC_000003.10:g.15495499G>C	NCBI36
NG_009032.1:g.47764C>G
NG_009032.2:g.47764C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.382C>G MANE Select	ENSP00000373298.3:p.Pro128Ala
ENST00000679838.1:c.*144C>G	ENSP00000505708.1:n.*144C>G
ENST00000681097.1:c.382C>G	ENSP00000505397.1:p.Pro128Ala
ENST00000383781.8:c.352C>G	ENSP00000373291.3:p.Pro118Ala
ENST00000383786.9:c.280C>G	ENSP00000373296.3:p.Pro94Ala
ENST00000383788.9:c.382C>G	ENSP00000373298.3:p.Pro128Ala
ENST00000603469.1:n.53C>G
ENST00000603808.5:c.382C>G	ENSP00000474271.1:p.Pro128Ala
ENST00000605797.1:c.211C>G	ENSP00000474936.1:p.Pro71Ala
NM_005677.3:c.382C>G	NP_005668.2:p.Pro128Ala
NM_080538.2:c.352C>G	NP_536799.1:p.Pro118Ala
NM_080539.3:c.280C>G	NP_536800.2:p.Pro94Ala
NM_005677.4:c.382C>G MANE Select	NP_005668.2:p.Pro128Ala
NM_080539.4:c.280C>G	NP_536800.2:p.Pro94Ala