Canonical Allele Identifier: CA70608367

Gene: COLQ

Linked Data

• ClinVar Variation Id: 1066385
• ClinVar RCV Id: RCV001377372
• dbSNP Id: rs1002244829
• gnomAD v4: 3-15466339-A-G
• MyVariant Identifiers: chr3:g.15507846A>G (hg19) ; chr3:g.15466339A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466339A>G , CM000665.2:g.15466339A>G	GRCh38
NC_000003.11:g.15507846A>G , CM000665.1:g.15507846A>G	GRCh37
NC_000003.10:g.15482850A>G	NCBI36
NG_009032.1:g.60413T>C
NG_009032.2:g.60413T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.814+2T>C MANE Select	ENSP00000373298.3:n.814+2T>C
ENST00000604401.2:n.810+2T>C
ENST00000679838.1:c.*576+2T>C	ENSP00000505708.1:n.*576+2T>C
ENST00000680545.1:n.580+2T>C
ENST00000681097.1:c.814+2T>C	ENSP00000505397.1:n.814+2T>C
ENST00000383781.8:c.784+2T>C	ENSP00000373291.3:n.784+2T>C
ENST00000383786.9:c.712+2T>C	ENSP00000373296.3:n.712+2T>C
ENST00000383788.9:c.814+2T>C	ENSP00000373298.3:n.814+2T>C
ENST00000603808.5:c.814+2T>C	ENSP00000474271.1:n.814+2T>C
NM_005677.3:c.814+2T>C	NP_005668.2:n.814+2T>C
NM_080538.2:c.784+2T>C	NP_536799.1:n.784+2T>C
NM_080539.3:c.712+2T>C	NP_536800.2:n.712+2T>C
NM_005677.4:c.814+2T>C MANE Select	NP_005668.2:n.814+2T>C
NM_080539.4:c.712+2T>C	NP_536800.2:n.712+2T>C