Canonical Allele Identifier: CA351597884

Gene: COLQ

Linked Data

• gnomAD v4: 3-15470539-C-A
• MyVariant Identifiers: chr3:g.15512046C>A (hg19) ; chr3:g.15470539C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470539C>A , CM000665.2:g.15470539C>A	GRCh38
NC_000003.11:g.15512046C>A , CM000665.1:g.15512046C>A	GRCh37
NC_000003.10:g.15487050C>A	NCBI36
NG_009032.1:g.56213G>T
NG_009032.2:g.56213G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.714G>T MANE Select	ENSP00000373298.3:p.Lys238Asn
ENST00000604401.2:n.710G>T
ENST00000679838.1:c.*476G>T	ENSP00000505708.1:n.*476G>T
ENST00000680545.1:n.480G>T
ENST00000681097.1:c.714G>T	ENSP00000505397.1:p.Lys238Asn
ENST00000383781.8:c.684G>T	ENSP00000373291.3:p.Lys228Asn
ENST00000383786.9:c.612G>T	ENSP00000373296.3:p.Lys204Asn
ENST00000383788.9:c.714G>T	ENSP00000373298.3:p.Lys238Asn
ENST00000603808.5:c.714G>T	ENSP00000474271.1:p.Lys238Asn
ENST00000605797.1:c.543G>T	ENSP00000474936.1:p.Lys181Asn
NM_005677.3:c.714G>T	NP_005668.2:p.Lys238Asn
NM_080538.2:c.684G>T	NP_536799.1:p.Lys228Asn
NM_080539.3:c.612G>T	NP_536800.2:p.Lys204Asn
NM_005677.4:c.714G>T MANE Select	NP_005668.2:p.Lys238Asn
NM_080539.4:c.612G>T	NP_536800.2:p.Lys204Asn