Canonical Allele Identifier: CA674974978

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1247736451
• MyVariant Identifiers: chr11:g.2594133del (hg19) ; chr11:g.2572903del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572903del , CM000673.2:g.2572903del	GRCh38
NC_000011.9:g.2594133del , CM000673.1:g.2594133del	GRCh37
NC_000011.8:g.2550709del	NCBI36
NG_008935.1:g.132913del , LRG_287:g.132913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.577del	ENSP00000434560.2:p.Val193CysfsTer9
ENST00000646564.2:c.478-10532del	ENSP00000495806.2:n.478-10532del
ENST00000155840.12:c.838del MANE Select	ENSP00000155840.2:p.Val280CysfsTer9
ENST00000335475.6:c.457del	ENSP00000334497.5:p.Val153CysfsTer9
ENST00000646564.1:c.124-10532del	ENSP00000495806.1:n.124-10532del
ENST00000155840.9:c.838del	ENSP00000155840.2:p.Val280CysfsTer9
ENST00000335475.5:c.457del	ENSP00000334497.5:p.Val153CysfsTer9
ENST00000496887.6:c.577del	ENSP00000434560.1:p.Val193CysfsTer?
NM_000218.2:c.838del , LRG_287t1:c.838del	NP_000209.2:p.Val280CysfsTer9
NM_181798.1:c.457del , LRG_287t2:c.457del	NP_861463.1:p.Val153CysfsTer9
NM_000218.3:c.838del MANE Select	NP_000209.2:p.Val280CysfsTer9