Canonical Allele Identifier: CA004814

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200832
• ClinVar RCV Id: RCV000182152 ; RCV001045929
• dbSNP Id: rs794728520
• MyVariant Identifiers: chr11:g.2604752A>T (hg19) ; chr11:g.2583522A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583522A>T , CM000673.2:g.2583522A>T	GRCh38
NC_000011.9:g.2604752A>T , CM000673.1:g.2604752A>T	GRCh37
NC_000011.8:g.2561328A>T	NCBI36
NG_008935.1:g.143532A>T , LRG_287:g.143532A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.748A>T	ENSP00000434560.2:p.Ile250Phe
ENST00000646564.2:c.565A>T	ENSP00000495806.2:p.Ile189Phe
ENST00000155840.12:c.1009A>T MANE Select	ENSP00000155840.2:p.Ile337Phe
ENST00000335475.6:c.628A>T	ENSP00000334497.5:p.Ile210Phe
ENST00000646564.1:c.211A>T	ENSP00000495806.1:p.Ile71Phe
ENST00000155840.9:c.1009A>T	ENSP00000155840.2:p.Ile337Phe
ENST00000335475.5:c.628A>T	ENSP00000334497.5:p.Ile210Phe
NM_000218.2:c.1009A>T , LRG_287t1:c.1009A>T	NP_000209.2:p.Ile337Phe
NM_181798.1:c.628A>T , LRG_287t2:c.628A>T	NP_861463.1:p.Ile210Phe
NM_000218.3:c.1009A>T MANE Select	NP_000209.2:p.Ile337Phe