Canonical Allele Identifier: CA2664638839

Gene: COLQ

Linked Data

• gnomAD v4: 3-15479219-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479219C>A , CM000665.2:g.15479219C>A	GRCh38
NC_000003.11:g.15520726C>A , CM000665.1:g.15520726C>A	GRCh37
NC_000003.10:g.15495730C>A	NCBI36
NG_009032.1:g.47533G>T
NG_009032.2:g.47533G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.366+119G>T MANE Select	ENSP00000373298.3:n.366+119G>T
ENST00000679838.1:c.*128+119G>T	ENSP00000505708.1:n.*128+119G>T
ENST00000681097.1:c.366+119G>T	ENSP00000505397.1:n.366+119G>T
ENST00000383781.8:c.336+119G>T	ENSP00000373291.3:n.336+119G>T
ENST00000383786.9:c.264+119G>T	ENSP00000373296.3:n.264+119G>T
ENST00000383788.9:c.366+119G>T	ENSP00000373298.3:n.366+119G>T
ENST00000603469.1:n.37+119G>T
ENST00000603808.5:c.366+119G>T	ENSP00000474271.1:n.366+119G>T
ENST00000605797.1:c.195+119G>T	ENSP00000474936.1:n.195+119G>T
NM_005677.3:c.366+119G>T	NP_005668.2:n.366+119G>T
NM_080538.2:c.336+119G>T	NP_536799.1:n.336+119G>T
NM_080539.3:c.264+119G>T	NP_536800.2:n.264+119G>T
NM_005677.4:c.366+119G>T MANE Select	NP_005668.2:n.366+119G>T
NM_080539.4:c.264+119G>T	NP_536800.2:n.264+119G>T