Canonical Allele Identifier: CA70601400

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15455754G>A , CM000665.2:g.15455754G>A	GRCh38
NC_000003.11:g.15497261G>A , CM000665.1:g.15497261G>A	GRCh37
NC_000003.10:g.15472265G>A	NCBI36
NG_009032.1:g.70998C>T
NG_009032.2:g.70998C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.1195+145C>T MANE Select	NP_005668.2:n.1195+145C>T
ENST00000383788.10:c.1195+145C>T MANE Select	ENSP00000373298.3:n.1195+145C>T
NM_005677.3:c.1195+145C>T	NP_005668.2:n.1195+145C>T
NM_080538.2:c.1165+145C>T	NP_536799.1:n.1165+145C>T
NM_080539.3:c.1093+145C>T	NP_536800.2:n.1093+145C>T
NM_080539.4:c.1093+145C>T	NP_536800.2:n.1093+145C>T
ENST00000383781.8:c.1165+145C>T	ENSP00000373291.3:n.1165+145C>T
ENST00000383786.9:c.1093+145C>T	ENSP00000373296.3:n.1093+145C>T
ENST00000383788.9:c.1195+145C>T	ENSP00000373298.3:n.1195+145C>T
ENST00000603808.5:c.1199+141C>T	ENSP00000474271.1:n.1199+141C>T
ENST00000604401.2:n.1051+145C>T
ENST00000629729.3:c.42+145C>T	ENSP00000518887.1:n.42+145C>T
ENST00000679838.1:c.*957+145C>T	ENSP00000505708.1:n.*957+145C>T
ENST00000680240.1:n.1107+145C>T
ENST00000680545.1:n.961+145C>T
ENST00000681097.1:c.*209+145C>T	ENSP00000505397.1:n.*209+145C>T
ENST00000681222.1:n.4686+145C>T