Canonical Allele Identifier: CA351596616

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15497523T>A (hg19) ; chr3:g.15456016T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15456016T>A , CM000665.2:g.15456016T>A	GRCh38
NC_000003.11:g.15497523T>A , CM000665.1:g.15497523T>A	GRCh37
NC_000003.10:g.15472527T>A	NCBI36
NG_009032.1:g.70736A>T
NG_009032.2:g.70736A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.1078A>T MANE Select	ENSP00000373298.3:p.Thr360Ser
ENST00000604401.2:n.934A>T
ENST00000679838.1:c.*840A>T	ENSP00000505708.1:n.*840A>T
ENST00000680240.1:n.990A>T
ENST00000680545.1:n.844A>T
ENST00000681097.1:c.*92A>T	ENSP00000505397.1:n.*92A>T
ENST00000681222.1:n.4569A>T
ENST00000383781.8:c.1048A>T	ENSP00000373291.3:p.Thr350Ser
ENST00000383786.9:c.976A>T	ENSP00000373296.3:p.Thr326Ser
ENST00000383788.9:c.1078A>T	ENSP00000373298.3:p.Thr360Ser
ENST00000603808.5:c.1078A>T	ENSP00000474271.1:p.Thr360Ser
NM_005677.3:c.1078A>T	NP_005668.2:p.Thr360Ser
NM_080538.2:c.1048A>T	NP_536799.1:p.Thr350Ser
NM_080539.3:c.976A>T	NP_536800.2:p.Thr326Ser
NM_005677.4:c.1078A>T MANE Select	NP_005668.2:p.Thr360Ser
NM_080539.4:c.976A>T	NP_536800.2:p.Thr326Ser