Canonical Allele Identifier: CA351598158

Gene: COLQ

Linked Data

• dbSNP Id: rs2062266247
• gnomAD v3: 3-15470609-A-G
• gnomAD v4: 3-15470609-A-G
• MyVariant Identifiers: chr3:g.15512116A>G (hg19) ; chr3:g.15470609A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470609A>G , CM000665.2:g.15470609A>G	GRCh38
NC_000003.11:g.15512116A>G , CM000665.1:g.15512116A>G	GRCh37
NC_000003.10:g.15487120A>G	NCBI36
NG_009032.1:g.56143T>C
NG_009032.2:g.56143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.644T>C MANE Select	ENSP00000373298.3:p.Met215Thr
ENST00000604401.2:n.640T>C
ENST00000679838.1:c.*406T>C	ENSP00000505708.1:n.*406T>C
ENST00000680545.1:n.410T>C
ENST00000681097.1:c.644T>C	ENSP00000505397.1:p.Met215Thr
ENST00000383781.8:c.614T>C	ENSP00000373291.3:p.Met205Thr
ENST00000383786.9:c.542T>C	ENSP00000373296.3:p.Met181Thr
ENST00000383788.9:c.644T>C	ENSP00000373298.3:p.Met215Thr
ENST00000603808.5:c.644T>C	ENSP00000474271.1:p.Met215Thr
ENST00000605797.1:c.473T>C	ENSP00000474936.1:p.Met158Thr
NM_005677.3:c.644T>C	NP_005668.2:p.Met215Thr
NM_080538.2:c.614T>C	NP_536799.1:p.Met205Thr
NM_080539.3:c.542T>C	NP_536800.2:p.Met181Thr
NM_005677.4:c.644T>C MANE Select	NP_005668.2:p.Met215Thr
NM_080539.4:c.542T>C	NP_536800.2:p.Met181Thr