Canonical Allele Identifier: CA2573146076

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1451451
• ClinVar RCV Id: RCV002007227
• dbSNP Id: rs2133733054

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572978_2572981dup , CM000673.2:g.2572978_2572981dup	GRCh38
NC_000011.9:g.2594208_2594211dup , CM000673.1:g.2594208_2594211dup	GRCh37
NC_000011.8:g.2550784_2550787dup	NCBI36
NG_008935.1:g.132988_132991dup , LRG_287:g.132988_132991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.652_655dup	ENSP00000434560.2:p.Gly219ValfsTer?
ENST00000646564.2:c.478-10457_478-10454dup	ENSP00000495806.2:n.478-10457_478-10454dup
ENST00000155840.12:c.913_916dup MANE Select	ENSP00000155840.2:p.Gly306ValfsTer?
ENST00000335475.6:c.532_535dup	ENSP00000334497.5:p.Gly179ValfsTer?
ENST00000646564.1:c.124-10457_124-10454dup	ENSP00000495806.1:n.124-10457_124-10454dup
ENST00000155840.9:c.913_916dup	ENSP00000155840.2:p.Gly306ValfsTer?
ENST00000335475.5:c.532_535dup	ENSP00000334497.5:p.Gly179ValfsTer?
NM_000218.2:c.913_916dup , LRG_287t1:c.913_916dup	NP_000209.2:p.Gly306ValfsTer?
NM_181798.1:c.532_535dup , LRG_287t2:c.532_535dup	NP_861463.1:p.Gly179ValfsTer?
NM_000218.3:c.913_916dup MANE Select	NP_000209.2:p.Gly306ValfsTer?