Canonical Allele Identifier: CA934462739

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848536618
• gnomAD v3: 11-2583502-CCTG-C
• gnomAD v4: 11-2583502-CCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583505_2583507del , CM000673.2:g.2583505_2583507del	GRCh38
NC_000011.9:g.2604735_2604737del , CM000673.1:g.2604735_2604737del	GRCh37
NC_000011.8:g.2561311_2561313del	NCBI36
NG_008935.1:g.143515_143517del , LRG_287:g.143515_143517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.731_733del	ENSP00000434560.2:p.Cys244del
ENST00000646564.2:c.548_550del	ENSP00000495806.2:p.Cys183del
ENST00000155840.12:c.992_994del MANE Select	ENSP00000155840.2:p.Cys331del
ENST00000335475.6:c.611_613del	ENSP00000334497.5:p.Cys204del
ENST00000646564.1:c.194_196del	ENSP00000495806.1:p.Cys65del
ENST00000155840.9:c.992_994del	ENSP00000155840.2:p.Cys331del
ENST00000335475.5:c.611_613del	ENSP00000334497.5:p.Cys204del
NM_000218.2:c.992_994del , LRG_287t1:c.992_994del	NP_000209.2:p.Cys331del
NM_181798.1:c.611_613del , LRG_287t2:c.611_613del	NP_861463.1:p.Cys204del
NM_000218.3:c.992_994del MANE Select	NP_000209.2:p.Cys331del