Canonical Allele Identifier: CA008075

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67103
• ClinVar RCV Id: RCV000057747 ; RCV001038670
• dbSNP Id: rs199472715
• MyVariant Identifiers: chr11:g.2593308T>C (hg19) ; chr11:g.2572078T>C (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572078T>C , CM000673.2:g.2572078T>C	GRCh38
NC_000011.9:g.2593308T>C , CM000673.1:g.2593308T>C	GRCh37
NC_000011.8:g.2549884T>C	NCBI36
NG_008935.1:g.132088T>C , LRG_287:g.132088T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.488T>C	ENSP00000434560.2:p.Leu163Pro
ENST00000646564.2:c.478-11357T>C	ENSP00000495806.2:n.478-11357T>C
ENST00000155840.12:c.749T>C MANE Select	ENSP00000155840.2:p.Leu250Pro
ENST00000335475.6:c.368T>C	ENSP00000334497.5:p.Leu123Pro
ENST00000646564.1:c.124-11357T>C	ENSP00000495806.1:n.124-11357T>C
ENST00000155840.9:c.749T>C	ENSP00000155840.2:p.Leu250Pro
ENST00000335475.5:c.368T>C	ENSP00000334497.5:p.Leu123Pro
ENST00000496887.6:c.488T>C	ENSP00000434560.1:p.Leu163Pro
NM_000218.2:c.749T>C , LRG_287t1:c.749T>C	NP_000209.2:p.Leu250Pro
NM_181798.1:c.368T>C , LRG_287t2:c.368T>C	NP_861463.1:p.Leu123Pro
NM_000218.3:c.749T>C MANE Select	NP_000209.2:p.Leu250Pro