Canonical Allele Identifier: CA2275965

Gene: COLQ

Linked Data

• ClinVar Variation Id: 546931
• ClinVar RCV Id: RCV000658956 ; RCV000813230
• dbSNP Id: rs373735085
• ExAC: 3:15507850 G / A
• gnomAD v2: 3-15507850-G-A
• gnomAD v3: 3-15466343-G-A
• gnomAD v4: 3-15466343-G-A
• MyVariant Identifiers: chr3:g.15507850G>A (hg19) ; chr3:g.15466343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466343G>A , CM000665.2:g.15466343G>A	GRCh38
NC_000003.11:g.15507850G>A , CM000665.1:g.15507850G>A	GRCh37
NC_000003.10:g.15482854G>A	NCBI36
NG_009032.1:g.60409C>T
NG_009032.2:g.60409C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.812C>T MANE Select	ENSP00000373298.3:p.Ala271Val
ENST00000604401.2:n.808C>T
ENST00000679838.1:c.*574C>T	ENSP00000505708.1:n.*574C>T
ENST00000680545.1:n.578C>T
ENST00000681097.1:c.812C>T	ENSP00000505397.1:p.Ala271Val
ENST00000383781.8:c.782C>T	ENSP00000373291.3:p.Ala261Val
ENST00000383786.9:c.710C>T	ENSP00000373296.3:p.Ala237Val
ENST00000383788.9:c.812C>T	ENSP00000373298.3:p.Ala271Val
ENST00000603808.5:c.812C>T	ENSP00000474271.1:p.Ala271Val
NM_005677.3:c.812C>T	NP_005668.2:p.Ala271Val
NM_080538.2:c.782C>T	NP_536799.1:p.Ala261Val
NM_080539.3:c.710C>T	NP_536800.2:p.Ala237Val
NM_005677.4:c.812C>T MANE Select	NP_005668.2:p.Ala271Val
NM_080539.4:c.710C>T	NP_536800.2:p.Ala237Val