Canonical Allele Identifier: CA351598153

Gene: COLQ

Linked Data

• dbSNP Id: rs1209105467
• gnomAD v2: 3-15512115-C-T
• gnomAD v4: 3-15470608-C-T
• MyVariant Identifiers: chr3:g.15512115C>T (hg19) ; chr3:g.15470608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470608C>T , CM000665.2:g.15470608C>T	GRCh38
NC_000003.11:g.15512115C>T , CM000665.1:g.15512115C>T	GRCh37
NC_000003.10:g.15487119C>T	NCBI36
NG_009032.1:g.56144G>A
NG_009032.2:g.56144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.645G>A MANE Select	ENSP00000373298.3:p.Met215Ile
ENST00000604401.2:n.641G>A
ENST00000679838.1:c.*407G>A	ENSP00000505708.1:n.*407G>A
ENST00000680545.1:n.411G>A
ENST00000681097.1:c.645G>A	ENSP00000505397.1:p.Met215Ile
ENST00000383781.8:c.615G>A	ENSP00000373291.3:p.Met205Ile
ENST00000383786.9:c.543G>A	ENSP00000373296.3:p.Met181Ile
ENST00000383788.9:c.645G>A	ENSP00000373298.3:p.Met215Ile
ENST00000603808.5:c.645G>A	ENSP00000474271.1:p.Met215Ile
ENST00000605797.1:c.474G>A	ENSP00000474936.1:p.Met158Ile
NM_005677.3:c.645G>A	NP_005668.2:p.Met215Ile
NM_080538.2:c.615G>A	NP_536799.1:p.Met205Ile
NM_080539.3:c.543G>A	NP_536800.2:p.Met181Ile
NM_005677.4:c.645G>A MANE Select	NP_005668.2:p.Met215Ile
NM_080539.4:c.543G>A	NP_536800.2:p.Met181Ile