Canonical Allele Identifier: CA432640337

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15458216C>T , CM000665.2:g.15458216C>T	GRCh38
NC_000003.11:g.15499723C>T , CM000665.1:g.15499723C>T	GRCh37
NC_000003.10:g.15474727C>T	NCBI36
NG_009032.1:g.68536G>A
NG_009032.2:g.68536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.924G>A MANE Select	ENSP00000373298.3:p.Val308=
ENST00000604401.2:n.811-1637G>A
ENST00000679838.1:c.*686G>A	ENSP00000505708.1:n.*686G>A
ENST00000680240.1:n.653G>A
ENST00000680545.1:n.690G>A
ENST00000681097.1:c.815-1637G>A	ENSP00000505397.1:n.815-1637G>A
ENST00000681222.1:n.2809G>A
ENST00000383781.8:c.894G>A	ENSP00000373291.3:p.Val298=
ENST00000383786.9:c.822G>A	ENSP00000373296.3:p.Val274=
ENST00000383788.9:c.924G>A	ENSP00000373298.3:p.Val308=
ENST00000603808.5:c.924G>A	ENSP00000474271.1:p.Val308=
NM_005677.3:c.924G>A	NP_005668.2:p.Val308=
NM_080538.2:c.894G>A	NP_536799.1:p.Val298=
NM_080539.3:c.822G>A	NP_536800.2:p.Val274=
NM_005677.4:c.924G>A MANE Select	NP_005668.2:p.Val308=
NM_080539.4:c.822G>A	NP_536800.2:p.Val274=