Canonical Allele Identifier: CA2697558900

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2723186
• ClinVar RCV Id: RCV003534248

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572855_2572856del , CM000673.2:g.2572855_2572856del	GRCh38
NC_000011.9:g.2594085_2594086del , CM000673.1:g.2594085_2594086del	GRCh37
NC_000011.8:g.2550661_2550662del	NCBI36
NG_008935.1:g.132865_132866del , LRG_287:g.132865_132866del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.529_530del	ENSP00000434560.2:p.Thr177HisfsTer20
ENST00000646564.2:c.478-10580_478-10579del	ENSP00000495806.2:n.478-10580_478-10579de...
ENST00000155840.12:c.790_791del MANE Select	ENSP00000155840.2:p.Thr264HisfsTer20
ENST00000335475.6:c.409_410del	ENSP00000334497.5:p.Thr137HisfsTer20
ENST00000646564.1:c.124-10580_124-10579del	ENSP00000495806.1:n.124-10580_124-10579de...
ENST00000155840.9:c.790_791del	ENSP00000155840.2:p.Thr264HisfsTer20
ENST00000335475.5:c.409_410del	ENSP00000334497.5:p.Thr137HisfsTer20
ENST00000496887.6:c.529_530del	ENSP00000434560.1:p.Thr177HisfsTer?
NM_000218.2:c.790_791del , LRG_287t1:c.790_791del	NP_000209.2:p.Thr264HisfsTer20
NM_181798.1:c.409_410del , LRG_287t2:c.409_410del	NP_861463.1:p.Thr137HisfsTer20
NM_000218.3:c.790_791del MANE Select	NP_000209.2:p.Thr264HisfsTer20