Canonical Allele Identifier: CA541361013

Gene: COLQ

Linked Data

• dbSNP Id: rs1433266330
• gnomAD v2: 3-15507973-T-C
• gnomAD v3: 3-15466466-T-C
• gnomAD v4: 3-15466466-T-C
• MyVariant Identifiers: chr3:g.15507973T>C (hg19) ; chr3:g.15466466T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466466T>C , CM000665.2:g.15466466T>C	GRCh38
NC_000003.11:g.15507973T>C , CM000665.1:g.15507973T>C	GRCh37
NC_000003.10:g.15482977T>C	NCBI36
NG_009032.1:g.60286A>G
NG_009032.2:g.60286A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.718-29A>G MANE Select	ENSP00000373298.3:n.718-29A>G
ENST00000604401.2:n.714-29A>G
ENST00000679838.1:c.*480-29A>G	ENSP00000505708.1:n.*480-29A>G
ENST00000680545.1:n.484-29A>G
ENST00000681097.1:c.718-29A>G	ENSP00000505397.1:n.718-29A>G
ENST00000383781.8:c.688-29A>G	ENSP00000373291.3:n.688-29A>G
ENST00000383786.9:c.616-29A>G	ENSP00000373296.3:n.616-29A>G
ENST00000383788.9:c.718-29A>G	ENSP00000373298.3:n.718-29A>G
ENST00000603808.5:c.718-29A>G	ENSP00000474271.1:n.718-29A>G
ENST00000605797.1:c.547-29A>G	ENSP00000474936.1:n.547-29A>G
NM_005677.3:c.718-29A>G	NP_005668.2:n.718-29A>G
NM_080538.2:c.688-29A>G	NP_536799.1:n.688-29A>G
NM_080539.3:c.616-29A>G	NP_536800.2:n.616-29A>G
NM_005677.4:c.718-29A>G MANE Select	NP_005668.2:n.718-29A>G
NM_080539.4:c.616-29A>G	NP_536800.2:n.616-29A>G