Canonical Allele Identifier: CA379131296

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1461432
• ClinVar RCV Id: RCV001983337 ; RCV002280199
• dbSNP Id: rs199472724
• MyVariant Identifiers: chr11:g.2594089C>A (hg19) ; chr11:g.2572859C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572859C>A , CM000673.2:g.2572859C>A	GRCh38
NC_000011.9:g.2594089C>A , CM000673.1:g.2594089C>A	GRCh37
NC_000011.8:g.2550665C>A	NCBI36
NG_008935.1:g.132869C>A , LRG_287:g.132869C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.533C>A	ENSP00000434560.2:p.Thr178Asn
ENST00000646564.2:c.478-10576C>A	ENSP00000495806.2:n.478-10576C>A
ENST00000155840.12:c.794C>A MANE Select	ENSP00000155840.2:p.Thr265Asn
ENST00000335475.6:c.413C>A	ENSP00000334497.5:p.Thr138Asn
ENST00000646564.1:c.124-10576C>A	ENSP00000495806.1:n.124-10576C>A
ENST00000155840.9:c.794C>A	ENSP00000155840.2:p.Thr265Asn
ENST00000335475.5:c.413C>A	ENSP00000334497.5:p.Thr138Asn
ENST00000496887.6:c.533C>A	ENSP00000434560.1:p.Thr178Asn
NM_000218.2:c.794C>A , LRG_287t1:c.794C>A	NP_000209.2:p.Thr265Asn
NM_181798.1:c.413C>A , LRG_287t2:c.413C>A	NP_861463.1:p.Thr138Asn
NM_000218.3:c.794C>A MANE Select	NP_000209.2:p.Thr265Asn