Canonical Allele Identifier: CA472038398

Gene: KCNQ1

Linked Data

• COSMIC: COSM687669
• MyVariant Identifiers: chr11:g.2604670A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583440A>T , CM000673.2:g.2583440A>T	GRCh38
NC_000011.9:g.2604670A>T , CM000673.1:g.2604670A>T	GRCh37
NC_000011.8:g.2561246A>T	NCBI36
NG_008935.1:g.143450A>T , LRG_287:g.143450A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.666A>T	ENSP00000434560.2:p.Thr222=
ENST00000646564.2:c.483A>T	ENSP00000495806.2:p.Thr161=
ENST00000155840.12:c.927A>T MANE Select	ENSP00000155840.2:p.Thr309=
ENST00000335475.6:c.546A>T	ENSP00000334497.5:p.Thr182=
ENST00000646564.1:c.129A>T	ENSP00000495806.1:p.Thr43=
ENST00000155840.9:c.927A>T	ENSP00000155840.2:p.Thr309=
ENST00000335475.5:c.546A>T	ENSP00000334497.5:p.Thr182=
NM_000218.2:c.927A>T , LRG_287t1:c.927A>T	NP_000209.2:p.Thr309=
NM_181798.1:c.546A>T , LRG_287t2:c.546A>T	NP_861463.1:p.Thr182=
NM_000218.3:c.927A>T MANE Select	NP_000209.2:p.Thr309=