Canonical Allele Identifier: CA1948242069

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848336277

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571638del , CM000673.2:g.2571638del	GRCh38
NC_000011.9:g.2592868del , CM000673.1:g.2592868del	GRCh37
NC_000011.8:g.2549444del	NCBI36
NG_008935.1:g.131648del , LRG_287:g.131648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.422+235del	ENSP00000434560.2:n.422+235del
ENST00000646564.2:c.478-11797del	ENSP00000495806.2:n.478-11797del
ENST00000155840.12:c.683+235del MANE Select	ENSP00000155840.2:n.683+235del
ENST00000335475.6:c.302+235del	ENSP00000334497.5:n.302+235del
ENST00000646564.1:c.124-11797del	ENSP00000495806.1:n.124-11797del
ENST00000155840.9:c.683+235del	ENSP00000155840.2:n.683+235del
ENST00000335475.5:c.302+235del	ENSP00000334497.5:n.302+235del
ENST00000496887.6:c.422+235del	ENSP00000434560.1:n.422+235del
NM_000218.2:c.683+235del , LRG_287t1:c.683+235del	NP_000209.2:n.683+235del
NM_181798.1:c.302+235del , LRG_287t2:c.302+235del	NP_861463.1:n.302+235del
NM_000218.3:c.683+235del MANE Select	NP_000209.2:n.683+235del