Canonical Allele Identifier: CA2275967

Gene: COLQ

Linked Data

• dbSNP Id: rs749610650
• ExAC: 3:15507854 G / A
• gnomAD v2: 3-15507854-G-A
• gnomAD v4: 3-15466347-G-A
• MyVariant Identifiers: chr3:g.15507854G>A (hg19) ; chr3:g.15466347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466347G>A , CM000665.2:g.15466347G>A	GRCh38
NC_000003.11:g.15507854G>A , CM000665.1:g.15507854G>A	GRCh37
NC_000003.10:g.15482858G>A	NCBI36
NG_009032.1:g.60405C>T
NG_009032.2:g.60405C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.808C>T MANE Select	ENSP00000373298.3:p.Pro270Ser
ENST00000604401.2:n.804C>T
ENST00000679838.1:c.*570C>T	ENSP00000505708.1:n.*570C>T
ENST00000680545.1:n.574C>T
ENST00000681097.1:c.808C>T	ENSP00000505397.1:p.Pro270Ser
ENST00000383781.8:c.778C>T	ENSP00000373291.3:p.Pro260Ser
ENST00000383786.9:c.706C>T	ENSP00000373296.3:p.Pro236Ser
ENST00000383788.9:c.808C>T	ENSP00000373298.3:p.Pro270Ser
ENST00000603808.5:c.808C>T	ENSP00000474271.1:p.Pro270Ser
NM_005677.3:c.808C>T	NP_005668.2:p.Pro270Ser
NM_080538.2:c.778C>T	NP_536799.1:p.Pro260Ser
NM_080539.3:c.706C>T	NP_536800.2:p.Pro236Ser
NM_005677.4:c.808C>T MANE Select	NP_005668.2:p.Pro270Ser
NM_080539.4:c.706C>T	NP_536800.2:p.Pro236Ser