Canonical Allele Identifier: CA2276188

Gene: COLQ

Linked Data

• dbSNP Id: rs768694041
• ExAC: 3:15520436 T / G
• gnomAD v2: 3-15520436-T-G
• gnomAD v4: 3-15478929-T-G
• MyVariant Identifiers: chr3:g.15520436T>G (hg19) ; chr3:g.15478929T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478929T>G , CM000665.2:g.15478929T>G	GRCh38
NC_000003.11:g.15520436T>G , CM000665.1:g.15520436T>G	GRCh37
NC_000003.10:g.15495440T>G	NCBI36
NG_009032.1:g.47823A>C
NG_009032.2:g.47823A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.393+48A>C MANE Select	ENSP00000373298.3:n.393+48A>C
ENST00000679838.1:c.*155+48A>C	ENSP00000505708.1:n.*155+48A>C
ENST00000681097.1:c.393+48A>C	ENSP00000505397.1:n.393+48A>C
ENST00000383781.8:c.363+48A>C	ENSP00000373291.3:n.363+48A>C
ENST00000383786.9:c.291+48A>C	ENSP00000373296.3:n.291+48A>C
ENST00000383788.9:c.393+48A>C	ENSP00000373298.3:n.393+48A>C
ENST00000603469.1:n.83+29A>C
ENST00000603808.5:c.393+48A>C	ENSP00000474271.1:n.393+48A>C
ENST00000605797.1:c.222+48A>C	ENSP00000474936.1:n.222+48A>C
NM_005677.3:c.393+48A>C	NP_005668.2:n.393+48A>C
NM_080538.2:c.363+48A>C	NP_536799.1:n.363+48A>C
NM_080539.3:c.291+48A>C	NP_536800.2:n.291+48A>C
NM_005677.4:c.393+48A>C MANE Select	NP_005668.2:n.393+48A>C
NM_080539.4:c.291+48A>C	NP_536800.2:n.291+48A>C