Canonical Allele Identifier: CA16619307

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 421737
• ClinVar RCV Id: RCV000484720 ; RCV000631616
• dbSNP Id: rs1064795333
• MyVariant Identifiers: chr11:g.2549239_2549240del (hg19) ; chr11:g.2528009_2528010del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528009_2528010del , CM000673.2:g.2528009_2528010del	GRCh38
NC_000011.9:g.2549239_2549240del , CM000673.1:g.2549239_2549240del	GRCh37
NC_000011.8:g.2505815_2505816del	NCBI36
NG_008935.1:g.88019_88020del , LRG_287:g.88019_88020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.207_208del	ENSP00000434560.2:p.Phe70LeufsTer?
ENST00000646564.2:c.468_469del	ENSP00000495806.2:p.Phe157LeufsTer?
ENST00000155840.12:c.468_469del MANE Select	ENSP00000155840.2:p.Phe157LeufsTer?
ENST00000335475.6:c.87_88del	ENSP00000334497.5:p.Phe30LeufsTer?
ENST00000646564.1:c.114_115del	ENSP00000495806.1:p.Phe39LeufsTer?
ENST00000155840.9:c.468_469del	ENSP00000155840.2:p.Phe157LeufsTer?
ENST00000335475.5:c.87_88del	ENSP00000334497.5:p.Phe30LeufsTer?
ENST00000496887.6:c.207_208del	ENSP00000434560.1:p.Phe70LeufsTer?
NM_000218.2:c.468_469del , LRG_287t1:c.468_469del	NP_000209.2:p.Phe157LeufsTer?
NM_181798.1:c.87_88del , LRG_287t2:c.87_88del	NP_861463.1:p.Phe30LeufsTer?
NM_000218.3:c.468_469del MANE Select	NP_000209.2:p.Phe157LeufsTer?