Canonical Allele Identifier: CA351597909

Gene: COLQ

Linked Data

• gnomAD v4: 3-15470546-C-G
• MyVariant Identifiers: chr3:g.15512053C>G (hg19) ; chr3:g.15470546C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470546C>G , CM000665.2:g.15470546C>G	GRCh38
NC_000003.11:g.15512053C>G , CM000665.1:g.15512053C>G	GRCh37
NC_000003.10:g.15487057C>G	NCBI36
NG_009032.1:g.56206G>C
NG_009032.2:g.56206G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.707G>C MANE Select	ENSP00000373298.3:p.Arg236Pro
ENST00000604401.2:n.703G>C
ENST00000679838.1:c.*469G>C	ENSP00000505708.1:n.*469G>C
ENST00000680545.1:n.473G>C
ENST00000681097.1:c.707G>C	ENSP00000505397.1:p.Arg236Pro
ENST00000383781.8:c.677G>C	ENSP00000373291.3:p.Arg226Pro
ENST00000383786.9:c.605G>C	ENSP00000373296.3:p.Arg202Pro
ENST00000383788.9:c.707G>C	ENSP00000373298.3:p.Arg236Pro
ENST00000603808.5:c.707G>C	ENSP00000474271.1:p.Arg236Pro
ENST00000605797.1:c.536G>C	ENSP00000474936.1:p.Arg179Pro
NM_005677.3:c.707G>C	NP_005668.2:p.Arg236Pro
NM_080538.2:c.677G>C	NP_536799.1:p.Arg226Pro
NM_080539.3:c.605G>C	NP_536800.2:p.Arg202Pro
NM_005677.4:c.707G>C MANE Select	NP_005668.2:p.Arg236Pro
NM_080539.4:c.605G>C	NP_536800.2:p.Arg202Pro