Canonical Allele Identifier: CA432642694

Gene: COLQ

Linked Data

• gnomAD v4: 3-15466426-C-G
• MyVariant Identifiers: chr3:g.15507933C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466426C>G , CM000665.2:g.15466426C>G	GRCh38
NC_000003.11:g.15507933C>G , CM000665.1:g.15507933C>G	GRCh37
NC_000003.10:g.15482937C>G	NCBI36
NG_009032.1:g.60326G>C
NG_009032.2:g.60326G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.729G>C MANE Select	ENSP00000373298.3:p.Gly243=
ENST00000604401.2:n.725G>C
ENST00000679838.1:c.*491G>C	ENSP00000505708.1:n.*491G>C
ENST00000680545.1:n.495G>C
ENST00000681097.1:c.729G>C	ENSP00000505397.1:p.Gly243=
ENST00000383781.8:c.699G>C	ENSP00000373291.3:p.Gly233=
ENST00000383786.9:c.627G>C	ENSP00000373296.3:p.Gly209=
ENST00000383788.9:c.729G>C	ENSP00000373298.3:p.Gly243=
ENST00000603808.5:c.729G>C	ENSP00000474271.1:p.Gly243=
ENST00000605797.1:c.558G>C	ENSP00000474936.1:p.Gly186=
NM_005677.3:c.729G>C	NP_005668.2:p.Gly243=
NM_080538.2:c.699G>C	NP_536799.1:p.Gly233=
NM_080539.3:c.627G>C	NP_536800.2:p.Gly209=
NM_005677.4:c.729G>C MANE Select	NP_005668.2:p.Gly243=
NM_080539.4:c.627G>C	NP_536800.2:p.Gly209=