Canonical Allele Identifier: CA432643316

Gene: COLQ

Linked Data

• dbSNP Id: rs763329693
• gnomAD v3: 3-15470542-G-C
• gnomAD v4: 3-15470542-G-C
• MyVariant Identifiers: chr3:g.15512049G>C (hg19) ; chr3:g.15470542G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470542G>C , CM000665.2:g.15470542G>C	GRCh38
NC_000003.11:g.15512049G>C , CM000665.1:g.15512049G>C	GRCh37
NC_000003.10:g.15487053G>C	NCBI36
NG_009032.1:g.56210C>G
NG_009032.2:g.56210C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.711C>G MANE Select	ENSP00000373298.3:p.Gly237=
ENST00000604401.2:n.707C>G
ENST00000679838.1:c.*473C>G	ENSP00000505708.1:n.*473C>G
ENST00000680545.1:n.477C>G
ENST00000681097.1:c.711C>G	ENSP00000505397.1:p.Gly237=
ENST00000383781.8:c.681C>G	ENSP00000373291.3:p.Gly227=
ENST00000383786.9:c.609C>G	ENSP00000373296.3:p.Gly203=
ENST00000383788.9:c.711C>G	ENSP00000373298.3:p.Gly237=
ENST00000603808.5:c.711C>G	ENSP00000474271.1:p.Gly237=
ENST00000605797.1:c.540C>G	ENSP00000474936.1:p.Gly180=
NM_005677.3:c.711C>G	NP_005668.2:p.Gly237=
NM_080538.2:c.681C>G	NP_536799.1:p.Gly227=
NM_080539.3:c.609C>G	NP_536800.2:p.Gly203=
NM_005677.4:c.711C>G MANE Select	NP_005668.2:p.Gly237=
NM_080539.4:c.609C>G	NP_536800.2:p.Gly203=