Canonical Allele Identifier: CA2275966

Gene: COLQ

Linked Data

• dbSNP Id: rs777577778
• ExAC: 3:15507851 C / A
• gnomAD v2: 3-15507851-C-A
• gnomAD v4: 3-15466344-C-A
• MyVariant Identifiers: chr3:g.15507851C>A (hg19) ; chr3:g.15466344C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466344C>A , CM000665.2:g.15466344C>A	GRCh38
NC_000003.11:g.15507851C>A , CM000665.1:g.15507851C>A	GRCh37
NC_000003.10:g.15482855C>A	NCBI36
NG_009032.1:g.60408G>T
NG_009032.2:g.60408G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.811G>T MANE Select	ENSP00000373298.3:p.Ala271Ser
ENST00000604401.2:n.807G>T
ENST00000679838.1:c.*573G>T	ENSP00000505708.1:n.*573G>T
ENST00000680545.1:n.577G>T
ENST00000681097.1:c.811G>T	ENSP00000505397.1:p.Ala271Ser
ENST00000383781.8:c.781G>T	ENSP00000373291.3:p.Ala261Ser
ENST00000383786.9:c.709G>T	ENSP00000373296.3:p.Ala237Ser
ENST00000383788.9:c.811G>T	ENSP00000373298.3:p.Ala271Ser
ENST00000603808.5:c.811G>T	ENSP00000474271.1:p.Ala271Ser
NM_005677.3:c.811G>T	NP_005668.2:p.Ala271Ser
NM_080538.2:c.781G>T	NP_536799.1:p.Ala261Ser
NM_080539.3:c.709G>T	NP_536800.2:p.Ala237Ser
NM_005677.4:c.811G>T MANE Select	NP_005668.2:p.Ala271Ser
NM_080539.4:c.709G>T	NP_536800.2:p.Ala237Ser