Canonical Allele Identifier: CA379129848

Gene: KCNQ1

Linked Data

• COSMIC: COSM1703348 ; COSM4550762
• MyVariant Identifiers: chr11:g.2591888G>A (hg19) ; chr11:g.2570658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570658G>A , CM000673.2:g.2570658G>A	GRCh38
NC_000011.9:g.2591888G>A , CM000673.1:g.2591888G>A	GRCh37
NC_000011.8:g.2548464G>A	NCBI36
NG_008935.1:g.130668G>A , LRG_287:g.130668G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.247G>A	ENSP00000434560.2:p.Glu83Lys
ENST00000646564.2:c.478-12777G>A	ENSP00000495806.2:n.478-12777G>A
ENST00000155840.12:c.508G>A MANE Select	ENSP00000155840.2:p.Glu170Lys
ENST00000335475.6:c.127G>A	ENSP00000334497.5:p.Glu43Lys
ENST00000646564.1:c.124-12777G>A	ENSP00000495806.1:n.124-12777G>A
ENST00000155840.9:c.508G>A	ENSP00000155840.2:p.Glu170Lys
ENST00000335475.5:c.127G>A	ENSP00000334497.5:p.Glu43Lys
ENST00000496887.6:c.247G>A	ENSP00000434560.1:p.Glu83Lys
NM_000218.2:c.508G>A , LRG_287t1:c.508G>A	NP_000209.2:p.Glu170Lys
NM_181798.1:c.127G>A , LRG_287t2:c.127G>A	NP_861463.1:p.Glu43Lys
NM_000218.3:c.508G>A MANE Select	NP_000209.2:p.Glu170Lys