Canonical Allele Identifier: CA118398
Gene: COLQ HGNC NCBI

Linked Data

ClinVar Variation Id: 6657
ClinVar RCV Id: RCV000007036
dbSNP Id: rs104893735
ExAC: 3:15507944 C / A
gnomAD v2: 3-15507944-C-A
gnomAD v4: 3-15466437-C-A
MyVariant Identifiers: chr3:g.15507944C>A (hg19) chr3:g.15466437C>A (hg38)
PubMed: PMID:11865139
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15466437C>A , CM000665.2:g.15466437C>A GRCh38
NC_000003.11:g.15507944C>A , CM000665.1:g.15507944C>A GRCh37
NC_000003.10:g.15482948C>A NCBI36
NG_009032.1:g.60315G>T
NG_009032.2:g.60315G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000383788.10:c.718G>T MANE Select ENSP00000373298.3:p.Gly240Ter
ENST00000604401.2:n.714G>T
ENST00000679838.1:c.*480G>T ENSP00000505708.1:n.*480G>T
ENST00000680545.1:n.484G>T
ENST00000681097.1:c.718G>T ENSP00000505397.1:p.Gly240Ter
ENST00000383781.8:c.688G>T ENSP00000373291.3:p.Gly230Ter
ENST00000383786.9:c.616G>T ENSP00000373296.3:p.Gly206Ter
ENST00000383788.9:c.718G>T ENSP00000373298.3:p.Gly240Ter
ENST00000603808.5:c.718G>T ENSP00000474271.1:p.Gly240Ter
ENST00000605797.1:c.547G>T ENSP00000474936.1:p.Gly183Ter
NM_005677.3:c.718G>T NP_005668.2:p.Gly240Ter
NM_080538.2:c.688G>T NP_536799.1:p.Gly230Ter
NM_080539.3:c.616G>T NP_536800.2:p.Gly206Ter
NM_005677.4:c.718G>T MANE Select NP_005668.2:p.Gly240Ter
NM_080539.4:c.616G>T NP_536800.2:p.Gly206Ter
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