Canonical Allele Identifier: CA915947936

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 656121
• ClinVar RCV Id: RCV000812459 ; RCV001008040
• dbSNP Id: rs1589957719
• gnomAD v4: 11-2572033-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572035del , CM000673.2:g.2572035del	GRCh38
NC_000011.9:g.2593265del , CM000673.1:g.2593265del	GRCh37
NC_000011.8:g.2549841del	NCBI36
NG_008935.1:g.132045del , LRG_287:g.132045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.445del	ENSP00000434560.2:p.Leu149Ter
ENST00000646564.2:c.478-11400del	ENSP00000495806.2:n.478-11400del
ENST00000155840.12:c.706del MANE Select	ENSP00000155840.2:p.Leu236Ter
ENST00000335475.6:c.325del	ENSP00000334497.5:p.Leu109Ter
ENST00000646564.1:c.124-11400del	ENSP00000495806.1:n.124-11400del
ENST00000155840.9:c.706del	ENSP00000155840.2:p.Leu236Ter
ENST00000335475.5:c.325del	ENSP00000334497.5:p.Leu109Ter
ENST00000496887.6:c.445del	ENSP00000434560.1:p.Leu149Ter
NM_000218.2:c.706del , LRG_287t1:c.706del	NP_000209.2:p.Leu236Ter
NM_181798.1:c.325del , LRG_287t2:c.325del	NP_861463.1:p.Leu109Ter
NM_000218.3:c.706del MANE Select	NP_000209.2:p.Leu236Ter