Canonical Allele Identifier: CA351598022

Gene: COLQ

Linked Data

• gnomAD v4: 3-15470576-T-G
• MyVariant Identifiers: chr3:g.15512083T>G (hg19) ; chr3:g.15470576T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.677A>C MANE Select	ENSP00000373298.3:p.His226Pro
ENST00000604401.2:n.673A>C
ENST00000679838.1:c.*439A>C	ENSP00000505708.1:n.*439A>C
ENST00000680545.1:n.443A>C
ENST00000681097.1:c.677A>C	ENSP00000505397.1:p.His226Pro
ENST00000383781.8:c.647A>C	ENSP00000373291.3:p.His216Pro
ENST00000383786.9:c.575A>C	ENSP00000373296.3:p.His192Pro
ENST00000383788.9:c.677A>C	ENSP00000373298.3:p.His226Pro
ENST00000603808.5:c.677A>C	ENSP00000474271.1:p.His226Pro
ENST00000605797.1:c.506A>C	ENSP00000474936.1:p.His169Pro
NM_005677.3:c.677A>C	NP_005668.2:p.His226Pro
NM_080538.2:c.647A>C	NP_536799.1:p.His216Pro
NM_080539.3:c.575A>C	NP_536800.2:p.His192Pro
NM_005677.4:c.677A>C MANE Select	NP_005668.2:p.His226Pro
NM_080539.4:c.575A>C	NP_536800.2:p.His192Pro