Canonical Allele Identifier: CA005449

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67019
• ClinVar RCV Id: RCV000057568 ; RCV001701653
• dbSNP Id: rs199472774
• MyVariant Identifiers: chr11:g.2608845T>C (hg19) ; chr11:g.2587615T>C (hg38)
• PubMed: PMID:10220144 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587615T>C , CM000673.2:g.2587615T>C	GRCh38
NC_000011.9:g.2608845T>C , CM000673.1:g.2608845T>C	GRCh37
NC_000011.8:g.2565421T>C	NCBI36
NG_008935.1:g.147625T>C , LRG_287:g.147625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.817T>C	ENSP00000434560.2:p.Trp273Arg
ENST00000646564.2:c.634T>C	ENSP00000495806.2:p.Trp212Arg
ENST00000155840.12:c.1174T>C MANE Select	ENSP00000155840.2:p.Trp392Arg
ENST00000335475.6:c.793T>C	ENSP00000334497.5:p.Trp265Arg
ENST00000646564.1:c.280T>C	ENSP00000495806.1:p.Trp94Arg
ENST00000155840.9:c.1174T>C	ENSP00000155840.2:p.Trp392Arg
ENST00000335475.5:c.793T>C	ENSP00000334497.5:p.Trp265Arg
NM_000218.2:c.1174T>C , LRG_287t1:c.1174T>C	NP_000209.2:p.Trp392Arg
NM_181798.1:c.793T>C , LRG_287t2:c.793T>C	NP_861463.1:p.Trp265Arg
NM_000218.3:c.1174T>C MANE Select	NP_000209.2:p.Trp392Arg