Canonical Allele Identifier: CA351599541

Gene: COLQ

Linked Data

• gnomAD v4: 3-15478990-C-G
• MyVariant Identifiers: chr3:g.15520497C>G (hg19) ; chr3:g.15478990C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478990C>G , CM000665.2:g.15478990C>G	GRCh38
NC_000003.11:g.15520497C>G , CM000665.1:g.15520497C>G	GRCh37
NC_000003.10:g.15495501C>G	NCBI36
NG_009032.1:g.47762G>C
NG_009032.2:g.47762G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.380G>C MANE Select	ENSP00000373298.3:p.Arg127Pro
ENST00000679838.1:c.*142G>C	ENSP00000505708.1:n.*142G>C
ENST00000681097.1:c.380G>C	ENSP00000505397.1:p.Arg127Pro
ENST00000383781.8:c.350G>C	ENSP00000373291.3:p.Arg117Pro
ENST00000383786.9:c.278G>C	ENSP00000373296.3:p.Arg93Pro
ENST00000383788.9:c.380G>C	ENSP00000373298.3:p.Arg127Pro
ENST00000603469.1:n.51G>C
ENST00000603808.5:c.380G>C	ENSP00000474271.1:p.Arg127Pro
ENST00000605797.1:c.209G>C	ENSP00000474936.1:p.Arg70Pro
NM_005677.3:c.380G>C	NP_005668.2:p.Arg127Pro
NM_080538.2:c.350G>C	NP_536799.1:p.Arg117Pro
NM_080539.3:c.278G>C	NP_536800.2:p.Arg93Pro
NM_005677.4:c.380G>C MANE Select	NP_005668.2:p.Arg127Pro
NM_080539.4:c.278G>C	NP_536800.2:p.Arg93Pro