Canonical Allele Identifier: CA005070

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52941
• ClinVar RCV Id: RCV000057537 ; RCV001378980
• dbSNP Id: rs199472764
• MyVariant Identifiers: chr11:g.2606454T>C (hg19) ; chr11:g.2585224T>C (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585224T>C , CM000673.2:g.2585224T>C	GRCh38
NC_000011.9:g.2606454T>C , CM000673.1:g.2606454T>C	GRCh37
NC_000011.8:g.2563030T>C	NCBI36
NG_008935.1:g.145234T>C , LRG_287:g.145234T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1679T>C	ENSP00000434560.2:n.771+1679T>C
ENST00000646564.2:c.588+1679T>C	ENSP00000495806.2:n.588+1679T>C
ENST00000155840.12:c.1045T>C MANE Select	ENSP00000155840.2:p.Ser349Pro
ENST00000335475.6:c.664T>C	ENSP00000334497.5:p.Ser222Pro
ENST00000646564.1:c.234+1679T>C	ENSP00000495806.1:n.234+1679T>C
ENST00000155840.9:c.1045T>C	ENSP00000155840.2:p.Ser349Pro
ENST00000335475.5:c.664T>C	ENSP00000334497.5:p.Ser222Pro
NM_000218.2:c.1045T>C , LRG_287t1:c.1045T>C	NP_000209.2:p.Ser349Pro
NM_181798.1:c.664T>C , LRG_287t2:c.664T>C	NP_861463.1:p.Ser222Pro
NM_000218.3:c.1045T>C MANE Select	NP_000209.2:p.Ser349Pro