Canonical Allele Identifier: CA008284

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200898
• ClinVar RCV Id: RCV000182306
• dbSNP Id: rs120074193
• MyVariant Identifiers: chr11:g.2594100G>C (hg19) ; chr11:g.2572870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572870G>C , CM000673.2:g.2572870G>C	GRCh38
NC_000011.9:g.2594100G>C , CM000673.1:g.2594100G>C	GRCh37
NC_000011.8:g.2550676G>C	NCBI36
NG_008935.1:g.132880G>C , LRG_287:g.132880G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.544G>C	ENSP00000434560.2:p.Gly182Arg
ENST00000646564.2:c.478-10565G>C	ENSP00000495806.2:n.478-10565G>C
ENST00000155840.12:c.805G>C MANE Select	ENSP00000155840.2:p.Gly269Arg
ENST00000335475.6:c.424G>C	ENSP00000334497.5:p.Gly142Arg
ENST00000646564.1:c.124-10565G>C	ENSP00000495806.1:n.124-10565G>C
ENST00000155840.9:c.805G>C	ENSP00000155840.2:p.Gly269Arg
ENST00000335475.5:c.424G>C	ENSP00000334497.5:p.Gly142Arg
ENST00000496887.6:c.544G>C	ENSP00000434560.1:p.Gly182Arg
NM_000218.2:c.805G>C , LRG_287t1:c.805G>C	NP_000209.2:p.Gly269Arg
NM_181798.1:c.424G>C , LRG_287t2:c.424G>C	NP_861463.1:p.Gly142Arg
NM_000218.3:c.805G>C MANE Select	NP_000209.2:p.Gly269Arg