Canonical Allele Identifier: CA916079925

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 869434
• ClinVar RCV Id: RCV001089527
• dbSNP Id: rs1848316236

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570628del , CM000673.2:g.2570628del	GRCh38
NC_000011.9:g.2591858del , CM000673.1:g.2591858del	GRCh37
NC_000011.8:g.2548434del	NCBI36
NG_008935.1:g.130638del , LRG_287:g.130638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.217del
ENST00000646564.2:c.478-12807del	ENSP00000495806.2:n.478-12807del
ENST00000155840.12:c.478del
ENST00000335475.6:c.97del
ENST00000646564.1:c.124-12807del	ENSP00000495806.1:n.124-12807del
ENST00000155840.9:c.478del
ENST00000335475.5:c.97del
ENST00000496887.6:c.217del
NM_000218.2:c.478del , LRG_287t1:c.478del
NM_181798.1:c.97del , LRG_287t2:c.97del
NM_000218.3:c.478del