Canonical Allele Identifier: CA351599499

Gene: COLQ

Linked Data

• gnomAD v4: 3-15478978-T-G
• MyVariant Identifiers: chr3:g.15520485T>G (hg19) ; chr3:g.15478978T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478978T>G , CM000665.2:g.15478978T>G	GRCh38
NC_000003.11:g.15520485T>G , CM000665.1:g.15520485T>G	GRCh37
NC_000003.10:g.15495489T>G	NCBI36
NG_009032.1:g.47774A>C
NG_009032.2:g.47774A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.392A>C MANE Select	ENSP00000373298.3:p.Lys131Thr
ENST00000679838.1:c.*154A>C	ENSP00000505708.1:n.*154A>C
ENST00000681097.1:c.392A>C	ENSP00000505397.1:p.Lys131Thr
ENST00000383781.8:c.362A>C	ENSP00000373291.3:p.Lys121Thr
ENST00000383786.9:c.290A>C	ENSP00000373296.3:p.Lys97Thr
ENST00000383788.9:c.392A>C	ENSP00000373298.3:p.Lys131Thr
ENST00000603469.1:n.63A>C
ENST00000603808.5:c.392A>C	ENSP00000474271.1:p.Lys131Thr
ENST00000605797.1:c.221A>C	ENSP00000474936.1:p.Lys74Thr
NM_005677.3:c.392A>C	NP_005668.2:p.Lys131Thr
NM_080538.2:c.362A>C	NP_536799.1:p.Lys121Thr
NM_080539.3:c.290A>C	NP_536800.2:p.Lys97Thr
NM_005677.4:c.392A>C MANE Select	NP_005668.2:p.Lys131Thr
NM_080539.4:c.290A>C	NP_536800.2:p.Lys97Thr