Canonical Allele Identifier: CA1139661783

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 976086
• ClinVar RCV Id: RCV001253269
• dbSNP Id: rs1846691402

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776036_2776048del , CM000673.2:g.2776036_2776048del	GRCh38
NC_000011.9:g.2797266_2797278del , CM000673.1:g.2797266_2797278del	GRCh37
NC_000011.8:g.2753842_2753854del	NCBI36
NG_008935.1:g.336046_336058del , LRG_287:g.336046_336058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1310_1322del	ENSP00000434560.2:p.Ile437ArgfsTer?
ENST00000646564.2:c.1127_1139del	ENSP00000495806.2:p.Ile376ArgfsTer?
ENST00000155840.12:c.1667_1679del MANE Select	ENSP00000155840.2:p.Ile556ArgfsTer?
ENST00000335475.6:c.1286_1298del	ENSP00000334497.5:p.Ile429ArgfsTer?
ENST00000646564.1:c.773_785del	ENSP00000495806.1:p.Ile258ArgfsTer?
ENST00000155840.9:c.1667_1679del	ENSP00000155840.2:p.Ile556ArgfsTer?
ENST00000335475.5:c.1286_1298del	ENSP00000334497.5:p.Ile429ArgfsTer?
NM_000218.2:c.1667_1679del , LRG_287t1:c.1667_1679del	NP_000209.2:p.Ile556ArgfsTer?
NM_181798.1:c.1286_1298del , LRG_287t2:c.1286_1298del	NP_861463.1:p.Ile429ArgfsTer?
NM_000218.3:c.1667_1679del MANE Select	NP_000209.2:p.Ile556ArgfsTer?