Canonical Allele Identifier: CA379138920

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1308222
• ClinVar RCV Id: RCV001774133
• dbSNP Id: rs1322261590
• MyVariant Identifiers: chr11:g.2790088A>C (hg19) ; chr11:g.2768858A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768858A>C , CM000673.2:g.2768858A>C	GRCh38
NC_000011.9:g.2790088A>C , CM000673.1:g.2790088A>C	GRCh37
NC_000011.8:g.2746664A>C	NCBI36
NG_008935.1:g.328868A>C , LRG_287:g.328868A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1172A>C	ENSP00000434560.2:p.His391Pro
ENST00000646564.2:c.989A>C	ENSP00000495806.2:p.His330Pro
ENST00000155840.12:c.1529A>C MANE Select	ENSP00000155840.2:p.His510Pro
ENST00000335475.6:c.1148A>C	ENSP00000334497.5:p.His383Pro
ENST00000646564.1:c.635A>C	ENSP00000495806.1:p.His212Pro
ENST00000155840.9:c.1529A>C	ENSP00000155840.2:p.His510Pro
ENST00000335475.5:c.1148A>C	ENSP00000334497.5:p.His383Pro
NM_000218.2:c.1529A>C , LRG_287t1:c.1529A>C	NP_000209.2:p.His510Pro
NM_181798.1:c.1148A>C , LRG_287t2:c.1148A>C	NP_861463.1:p.His383Pro
NM_000218.3:c.1529A>C MANE Select	NP_000209.2:p.His510Pro