Canonical Allele Identifier: CA379131268

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1723040
• ClinVar RCV Id: RCV002306147
• MyVariant Identifiers: chr11:g.2594083T>A (hg19) ; chr11:g.2572853T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572853T>A , CM000673.2:g.2572853T>A	GRCh38
NC_000011.9:g.2594083T>A , CM000673.1:g.2594083T>A	GRCh37
NC_000011.8:g.2550659T>A	NCBI36
NG_008935.1:g.132863T>A , LRG_287:g.132863T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.527T>A	ENSP00000434560.2:p.Ile176Lys
ENST00000646564.2:c.478-10582T>A	ENSP00000495806.2:n.478-10582T>A
ENST00000155840.12:c.788T>A MANE Select	ENSP00000155840.2:p.Ile263Lys
ENST00000335475.6:c.407T>A	ENSP00000334497.5:p.Ile136Lys
ENST00000646564.1:c.124-10582T>A	ENSP00000495806.1:n.124-10582T>A
ENST00000155840.9:c.788T>A	ENSP00000155840.2:p.Ile263Lys
ENST00000335475.5:c.407T>A	ENSP00000334497.5:p.Ile136Lys
ENST00000496887.6:c.527T>A	ENSP00000434560.1:p.Ile176Lys
NM_000218.2:c.788T>A , LRG_287t1:c.788T>A	NP_000209.2:p.Ile263Lys
NM_181798.1:c.407T>A , LRG_287t2:c.407T>A	NP_861463.1:p.Ile136Lys
NM_000218.3:c.788T>A MANE Select	NP_000209.2:p.Ile263Lys