Canonical Allele Identifier: CA351597886

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512047T>A (hg19) ; chr3:g.15470540T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470540T>A , CM000665.2:g.15470540T>A	GRCh38
NC_000003.11:g.15512047T>A , CM000665.1:g.15512047T>A	GRCh37
NC_000003.10:g.15487051T>A	NCBI36
NG_009032.1:g.56212A>T
NG_009032.2:g.56212A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.713A>T MANE Select	ENSP00000373298.3:p.Lys238Met
ENST00000604401.2:n.709A>T
ENST00000679838.1:c.*475A>T	ENSP00000505708.1:n.*475A>T
ENST00000680545.1:n.479A>T
ENST00000681097.1:c.713A>T	ENSP00000505397.1:p.Lys238Met
ENST00000383781.8:c.683A>T	ENSP00000373291.3:p.Lys228Met
ENST00000383786.9:c.611A>T	ENSP00000373296.3:p.Lys204Met
ENST00000383788.9:c.713A>T	ENSP00000373298.3:p.Lys238Met
ENST00000603808.5:c.713A>T	ENSP00000474271.1:p.Lys238Met
ENST00000605797.1:c.542A>T	ENSP00000474936.1:p.Lys181Met
NM_005677.3:c.713A>T	NP_005668.2:p.Lys238Met
NM_080538.2:c.683A>T	NP_536799.1:p.Lys228Met
NM_080539.3:c.611A>T	NP_536800.2:p.Lys204Met
NM_005677.4:c.713A>T MANE Select	NP_005668.2:p.Lys238Met
NM_080539.4:c.611A>T	NP_536800.2:p.Lys204Met