Canonical Allele Identifier: CA351598020

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512083T>A (hg19) ; chr3:g.15470576T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470576T>A , CM000665.2:g.15470576T>A	GRCh38
NC_000003.11:g.15512083T>A , CM000665.1:g.15512083T>A	GRCh37
NC_000003.10:g.15487087T>A	NCBI36
NG_009032.1:g.56176A>T
NG_009032.2:g.56176A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.677A>T MANE Select	ENSP00000373298.3:p.His226Leu
ENST00000604401.2:n.673A>T
ENST00000679838.1:c.*439A>T	ENSP00000505708.1:n.*439A>T
ENST00000680545.1:n.443A>T
ENST00000681097.1:c.677A>T	ENSP00000505397.1:p.His226Leu
ENST00000383781.8:c.647A>T	ENSP00000373291.3:p.His216Leu
ENST00000383786.9:c.575A>T	ENSP00000373296.3:p.His192Leu
ENST00000383788.9:c.677A>T	ENSP00000373298.3:p.His226Leu
ENST00000603808.5:c.677A>T	ENSP00000474271.1:p.His226Leu
ENST00000605797.1:c.506A>T	ENSP00000474936.1:p.His169Leu
NM_005677.3:c.677A>T	NP_005668.2:p.His226Leu
NM_080538.2:c.647A>T	NP_536799.1:p.His216Leu
NM_080539.3:c.575A>T	NP_536800.2:p.His192Leu
NM_005677.4:c.677A>T MANE Select	NP_005668.2:p.His226Leu
NM_080539.4:c.575A>T	NP_536800.2:p.His192Leu