Canonical Allele Identifier: CA004825

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52928
• ClinVar RCV Id: RCV000045928 ; RCV000057523
• dbSNP Id: rs199472758
• MyVariant Identifiers: chr11:g.2604756C>T (hg19) ; chr11:g.2583526C>T (hg38)
• PubMed: PMID:19862833 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583526C>T , CM000673.2:g.2583526C>T	GRCh38
NC_000011.9:g.2604756C>T , CM000673.1:g.2604756C>T	GRCh37
NC_000011.8:g.2561332C>T	NCBI36
NG_008935.1:g.143536C>T , LRG_287:g.143536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.752C>T	ENSP00000434560.2:p.Ser251Phe
ENST00000646564.2:c.569C>T	ENSP00000495806.2:p.Ser190Phe
ENST00000155840.12:c.1013C>T MANE Select	ENSP00000155840.2:p.Ser338Phe
ENST00000335475.6:c.632C>T	ENSP00000334497.5:p.Ser211Phe
ENST00000646564.1:c.215C>T	ENSP00000495806.1:p.Ser72Phe
ENST00000155840.9:c.1013C>T	ENSP00000155840.2:p.Ser338Phe
ENST00000335475.5:c.632C>T	ENSP00000334497.5:p.Ser211Phe
NM_000218.2:c.1013C>T , LRG_287t1:c.1013C>T	NP_000209.2:p.Ser338Phe
NM_181798.1:c.632C>T , LRG_287t2:c.632C>T	NP_861463.1:p.Ser211Phe
NM_000218.3:c.1013C>T MANE Select	NP_000209.2:p.Ser338Phe