Canonical Allele Identifier: CA351598036

Gene: COLQ

Linked Data

• dbSNP Id: rs2062265318
• gnomAD v4: 3-15470580-C-G
• MyVariant Identifiers: chr3:g.15512087C>G (hg19) ; chr3:g.15470580C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470580C>G , CM000665.2:g.15470580C>G	GRCh38
NC_000003.11:g.15512087C>G , CM000665.1:g.15512087C>G	GRCh37
NC_000003.10:g.15487091C>G	NCBI36
NG_009032.1:g.56172G>C
NG_009032.2:g.56172G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.673G>C MANE Select	ENSP00000373298.3:p.Gly225Arg
ENST00000604401.2:n.669G>C
ENST00000679838.1:c.*435G>C	ENSP00000505708.1:n.*435G>C
ENST00000680545.1:n.439G>C
ENST00000681097.1:c.673G>C	ENSP00000505397.1:p.Gly225Arg
ENST00000383781.8:c.643G>C	ENSP00000373291.3:p.Gly215Arg
ENST00000383786.9:c.571G>C	ENSP00000373296.3:p.Gly191Arg
ENST00000383788.9:c.673G>C	ENSP00000373298.3:p.Gly225Arg
ENST00000603808.5:c.673G>C	ENSP00000474271.1:p.Gly225Arg
ENST00000605797.1:c.502G>C	ENSP00000474936.1:p.Gly168Arg
NM_005677.3:c.673G>C	NP_005668.2:p.Gly225Arg
NM_080538.2:c.643G>C	NP_536799.1:p.Gly215Arg
NM_080539.3:c.571G>C	NP_536800.2:p.Gly191Arg
NM_005677.4:c.673G>C MANE Select	NP_005668.2:p.Gly225Arg
NM_080539.4:c.571G>C	NP_536800.2:p.Gly191Arg