Canonical Allele Identifier: CA351598118

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512107T>G (hg19) ; chr3:g.15470600T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470600T>G , CM000665.2:g.15470600T>G	GRCh38
NC_000003.11:g.15512107T>G , CM000665.1:g.15512107T>G	GRCh37
NC_000003.10:g.15487111T>G	NCBI36
NG_009032.1:g.56152A>C
NG_009032.2:g.56152A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.653A>C MANE Select	ENSP00000373298.3:p.Lys218Thr
ENST00000604401.2:n.649A>C
ENST00000679838.1:c.*415A>C	ENSP00000505708.1:n.*415A>C
ENST00000680545.1:n.419A>C
ENST00000681097.1:c.653A>C	ENSP00000505397.1:p.Lys218Thr
ENST00000383781.8:c.623A>C	ENSP00000373291.3:p.Lys208Thr
ENST00000383786.9:c.551A>C	ENSP00000373296.3:p.Lys184Thr
ENST00000383788.9:c.653A>C	ENSP00000373298.3:p.Lys218Thr
ENST00000603808.5:c.653A>C	ENSP00000474271.1:p.Lys218Thr
ENST00000605797.1:c.482A>C	ENSP00000474936.1:p.Lys161Thr
NM_005677.3:c.653A>C	NP_005668.2:p.Lys218Thr
NM_080538.2:c.623A>C	NP_536799.1:p.Lys208Thr
NM_080539.3:c.551A>C	NP_536800.2:p.Lys184Thr
NM_005677.4:c.653A>C MANE Select	NP_005668.2:p.Lys218Thr
NM_080539.4:c.551A>C	NP_536800.2:p.Lys184Thr