Canonical Allele Identifier: CA007337

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53060
• ClinVar RCV Id: RCV000057691 ; RCV003162398
• dbSNP Id: rs199472697
• MyVariant Identifiers: chr11:g.2591901G>C (hg19) ; chr11:g.2570671G>C (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570671G>C , CM000673.2:g.2570671G>C	GRCh38
NC_000011.9:g.2591901G>C , CM000673.1:g.2591901G>C	GRCh37
NC_000011.8:g.2548477G>C	NCBI36
NG_008935.1:g.130681G>C , LRG_287:g.130681G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.260G>C	ENSP00000434560.2:p.Arg87Pro
ENST00000646564.2:c.478-12764G>C	ENSP00000495806.2:n.478-12764G>C
ENST00000155840.12:c.521G>C MANE Select	ENSP00000155840.2:p.Arg174Pro
ENST00000335475.6:c.140G>C	ENSP00000334497.5:p.Arg47Pro
ENST00000646564.1:c.124-12764G>C	ENSP00000495806.1:n.124-12764G>C
ENST00000155840.9:c.521G>C	ENSP00000155840.2:p.Arg174Pro
ENST00000335475.5:c.140G>C	ENSP00000334497.5:p.Arg47Pro
ENST00000496887.6:c.260G>C	ENSP00000434560.1:p.Arg87Pro
NM_000218.2:c.521G>C , LRG_287t1:c.521G>C	NP_000209.2:p.Arg174Pro
NM_181798.1:c.140G>C , LRG_287t2:c.140G>C	NP_861463.1:p.Arg47Pro
NM_000218.3:c.521G>C MANE Select	NP_000209.2:p.Arg174Pro