Canonical Allele Identifier: CA915947933

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 817016
• ClinVar RCV Id: RCV001008058
• dbSNP Id: rs1589956565

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570663del , CM000673.2:g.2570663del	GRCh38
NC_000011.9:g.2591893del , CM000673.1:g.2591893del	GRCh37
NC_000011.8:g.2548469del	NCBI36
NG_008935.1:g.130673del , LRG_287:g.130673del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.252del	ENSP00000434560.2:p.Tyr84Ter
ENST00000646564.2:c.478-12772del	ENSP00000495806.2:n.478-12772del
ENST00000155840.12:c.513del MANE Select	ENSP00000155840.2:p.Tyr171Ter
ENST00000335475.6:c.132del	ENSP00000334497.5:p.Tyr44Ter
ENST00000646564.1:c.124-12772del	ENSP00000495806.1:n.124-12772del
ENST00000155840.9:c.513del	ENSP00000155840.2:p.Tyr171Ter
ENST00000335475.5:c.132del	ENSP00000334497.5:p.Tyr44Ter
ENST00000496887.6:c.252del	ENSP00000434560.1:p.Tyr84Ter
NM_000218.2:c.513del , LRG_287t1:c.513del	NP_000209.2:p.Tyr171Ter
NM_181798.1:c.132del , LRG_287t2:c.132del	NP_861463.1:p.Tyr44Ter
NM_000218.3:c.513del MANE Select	NP_000209.2:p.Tyr171Ter