Canonical Allele Identifier: CA70619788

Gene: COLQ

Linked Data

• dbSNP Id: rs756937088
• gnomAD v2: 3-15520649-C-T
• gnomAD v3: 3-15479142-C-T
• gnomAD v4: 3-15479142-C-T
• MyVariant Identifiers: chr3:g.15520649C>T (hg19) ; chr3:g.15479142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479142C>T , CM000665.2:g.15479142C>T	GRCh38
NC_000003.11:g.15520649C>T , CM000665.1:g.15520649C>T	GRCh37
NC_000003.10:g.15495653C>T	NCBI36
NG_009032.1:g.47610G>A
NG_009032.2:g.47610G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.367-139G>A MANE Select	ENSP00000373298.3:n.367-139G>A
ENST00000679838.1:c.*129-139G>A	ENSP00000505708.1:n.*129-139G>A
ENST00000681097.1:c.367-139G>A	ENSP00000505397.1:n.367-139G>A
ENST00000383781.8:c.337-139G>A	ENSP00000373291.3:n.337-139G>A
ENST00000383786.9:c.265-139G>A	ENSP00000373296.3:n.265-139G>A
ENST00000383788.9:c.367-139G>A	ENSP00000373298.3:n.367-139G>A
ENST00000603469.1:n.38-139G>A
ENST00000603808.5:c.367-139G>A	ENSP00000474271.1:n.367-139G>A
ENST00000605797.1:c.196-139G>A	ENSP00000474936.1:n.196-139G>A
NM_005677.3:c.367-139G>A	NP_005668.2:n.367-139G>A
NM_080538.2:c.337-139G>A	NP_536799.1:n.337-139G>A
NM_080539.3:c.265-139G>A	NP_536800.2:n.265-139G>A
NM_005677.4:c.367-139G>A MANE Select	NP_005668.2:n.367-139G>A
NM_080539.4:c.265-139G>A	NP_536800.2:n.265-139G>A