Canonical Allele Identifier: CA432640271

Gene: COLQ

Linked Data

• dbSNP Id: rs121908924
• gnomAD v2: 3-15499704-G-T
• gnomAD v4: 3-15458197-G-T
• MyVariant Identifiers: chr3:g.15499704G>T (hg19) ; chr3:g.15458197G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15458197G>T , CM000665.2:g.15458197G>T	GRCh38
NC_000003.11:g.15499704G>T , CM000665.1:g.15499704G>T	GRCh37
NC_000003.10:g.15474708G>T	NCBI36
NG_009032.1:g.68555C>A
NG_009032.2:g.68555C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.943C>A MANE Select	ENSP00000373298.3:p.Arg315=
ENST00000604401.2:n.811-1618C>A
ENST00000679838.1:c.*705C>A	ENSP00000505708.1:n.*705C>A
ENST00000680240.1:n.672C>A
ENST00000680545.1:n.709C>A
ENST00000681097.1:c.815-1618C>A	ENSP00000505397.1:n.815-1618C>A
ENST00000681222.1:n.2828C>A
ENST00000383781.8:c.913C>A	ENSP00000373291.3:p.Arg305=
ENST00000383786.9:c.841C>A	ENSP00000373296.3:p.Arg281=
ENST00000383788.9:c.943C>A	ENSP00000373298.3:p.Arg315=
ENST00000603808.5:c.943C>A	ENSP00000474271.1:p.Arg315=
NM_005677.3:c.943C>A	NP_005668.2:p.Arg315=
NM_080538.2:c.913C>A	NP_536799.1:p.Arg305=
NM_080539.3:c.841C>A	NP_536800.2:p.Arg281=
NM_005677.4:c.943C>A MANE Select	NP_005668.2:p.Arg315=
NM_080539.4:c.841C>A	NP_536800.2:p.Arg281=