Canonical Allele Identifier: CA005909

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52992
• ClinVar RCV Id: RCV000057594 ; RCV000182198
• dbSNP Id: rs145974930
• MyVariant Identifiers: chr11:g.2790112G>C (hg19) ; chr11:g.2768882G>C (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768882G>C , CM000673.2:g.2768882G>C	GRCh38
NC_000011.9:g.2790112G>C , CM000673.1:g.2790112G>C	GRCh37
NC_000011.8:g.2746688G>C	NCBI36
NG_008935.1:g.328892G>C , LRG_287:g.328892G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1196G>C	ENSP00000434560.2:p.Arg399Pro
ENST00000646564.2:c.1013G>C	ENSP00000495806.2:p.Arg338Pro
ENST00000155840.12:c.1553G>C MANE Select	ENSP00000155840.2:p.Arg518Pro
ENST00000335475.6:c.1172G>C	ENSP00000334497.5:p.Arg391Pro
ENST00000646564.1:c.659G>C	ENSP00000495806.1:p.Arg220Pro
ENST00000155840.9:c.1553G>C	ENSP00000155840.2:p.Arg518Pro
ENST00000335475.5:c.1172G>C	ENSP00000334497.5:p.Arg391Pro
NM_000218.2:c.1553G>C , LRG_287t1:c.1553G>C	NP_000209.2:p.Arg518Pro
NM_181798.1:c.1172G>C , LRG_287t2:c.1172G>C	NP_861463.1:p.Arg391Pro
NM_000218.3:c.1553G>C MANE Select	NP_000209.2:p.Arg518Pro