Canonical Allele Identifier: CA007488

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67083
• ClinVar RCV Id: RCV000057703
• dbSNP Id: rs104894252
• MyVariant Identifiers: chr11:g.2591945G>C (hg19) ; chr11:g.2570715G>C (hg38)
• PubMed: PMID:10220144 ; PMID:10376919 ; PMID:22373669 ; PMID:22456477 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570715G>C , CM000673.2:g.2570715G>C	GRCh38
NC_000011.9:g.2591945G>C , CM000673.1:g.2591945G>C	GRCh37
NC_000011.8:g.2548521G>C	NCBI36
NG_008935.1:g.130725G>C , LRG_287:g.130725G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.304G>C	ENSP00000434560.2:p.Gly102Arg
ENST00000646564.2:c.478-12720G>C	ENSP00000495806.2:n.478-12720G>C
ENST00000155840.12:c.565G>C MANE Select	ENSP00000155840.2:p.Gly189Arg
ENST00000335475.6:c.184G>C	ENSP00000334497.5:p.Gly62Arg
ENST00000646564.1:c.124-12720G>C	ENSP00000495806.1:n.124-12720G>C
ENST00000155840.9:c.565G>C	ENSP00000155840.2:p.Gly189Arg
ENST00000335475.5:c.184G>C	ENSP00000334497.5:p.Gly62Arg
ENST00000496887.6:c.304G>C	ENSP00000434560.1:p.Gly102Arg
NM_000218.2:c.565G>C , LRG_287t1:c.565G>C	NP_000209.2:p.Gly189Arg
NM_181798.1:c.184G>C , LRG_287t2:c.184G>C	NP_861463.1:p.Gly62Arg
NM_000218.3:c.565G>C MANE Select	NP_000209.2:p.Gly189Arg