Canonical Allele Identifier: CA005693

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52981
• ClinVar RCV Id: RCV000057584
• dbSNP Id: rs199473476
• MyVariant Identifiers: chr11:g.2610054C>T (hg19) ; chr11:g.2588824C>T (hg38)
• PubMed: PMID:17905336 ; PMID:19808498 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588824C>T , CM000673.2:g.2588824C>T	GRCh38
NC_000011.9:g.2610054C>T , CM000673.1:g.2610054C>T	GRCh37
NC_000011.8:g.2566630C>T	NCBI36
NG_008935.1:g.148834C>T , LRG_287:g.148834C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1006C>T	ENSP00000434560.2:p.His336Tyr
ENST00000646564.2:c.823C>T	ENSP00000495806.2:p.His275Tyr
ENST00000155840.12:c.1363C>T MANE Select	ENSP00000155840.2:p.His455Tyr
ENST00000335475.6:c.982C>T	ENSP00000334497.5:p.His328Tyr
ENST00000646564.1:c.469C>T	ENSP00000495806.1:p.His157Tyr
ENST00000155840.9:c.1363C>T	ENSP00000155840.2:p.His455Tyr
ENST00000335475.5:c.982C>T	ENSP00000334497.5:p.His328Tyr
NM_000218.2:c.1363C>T , LRG_287t1:c.1363C>T	NP_000209.2:p.His455Tyr
NM_181798.1:c.982C>T , LRG_287t2:c.982C>T	NP_861463.1:p.His328Tyr
NM_000218.3:c.1363C>T MANE Select	NP_000209.2:p.His455Tyr