Canonical Allele Identifier: CA913188344

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 919956
• ClinVar RCV Id: RCV001842733
• dbSNP Id: rs1848574802

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585222_2585233delinsCA , CM000673.2:g.2585222_2585233delinsCA	GRCh38
NC_000011.9:g.2606452_2606463delinsCA , CM000673.1:g.2606452_2606463delinsCA	GRCh37
NC_000011.8:g.2563028_2563039delinsCA	NCBI36
NG_008935.1:g.145232_145243delinsCA , LRG_287:g.145232_145243delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1677_771+1688delinsCA	ENSP00000434560.2:n.771+1677_771+1688delinsCA
ENST00000646564.2:c.588+1677_588+1688delinsCA	ENSP00000495806.2:n.588+1677_588+1688delinsCA
ENST00000155840.12:c.1043_1054delinsCA MANE Select	ENSP00000155840.2:p.Gly348AlafsTer3
ENST00000335475.6:c.662_673delinsCA	ENSP00000334497.5:p.Gly221AlafsTer3
ENST00000646564.1:c.234+1677_234+1688delinsCA	ENSP00000495806.1:n.234+1677_234+1688delinsCA
ENST00000155840.9:c.1043_1054delinsCA	ENSP00000155840.2:p.Gly348AlafsTer3
ENST00000335475.5:c.662_673delinsCA	ENSP00000334497.5:p.Gly221AlafsTer3
NM_000218.2:c.1043_1054delinsCA , LRG_287t1:c.1043_1054delinsCA	NP_000209.2:p.Gly348AlafsTer3
NM_181798.1:c.662_673delinsCA , LRG_287t2:c.662_673delinsCA	NP_861463.1:p.Gly221AlafsTer3
NM_000218.3:c.1043_1054delinsCA MANE Select	NP_000209.2:p.Gly348AlafsTer3