Canonical Allele Identifier: CA1347593072

Gene: COLQ

Linked Data

• dbSNP Id: rs2062435147
• gnomAD v4: 3-15479210-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479210C>G , CM000665.2:g.15479210C>G	GRCh38
NC_000003.11:g.15520717C>G , CM000665.1:g.15520717C>G	GRCh37
NC_000003.10:g.15495721C>G	NCBI36
NG_009032.1:g.47542G>C
NG_009032.2:g.47542G>C

Transcript Alleles

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