Canonical Allele Identifier: CA1948242407

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848340383

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571916_2571917del , CM000673.2:g.2571916_2571917del	GRCh38
NC_000011.9:g.2593146_2593147del , CM000673.1:g.2593146_2593147del	GRCh37
NC_000011.8:g.2549722_2549723del	NCBI36
NG_008935.1:g.131926_131927del , LRG_287:g.131926_131927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.423-97_423-96del	ENSP00000434560.2:n.423-97_423-96del
ENST00000646564.2:c.478-11519_478-11518del	ENSP00000495806.2:n.478-11519_478-11518del
ENST00000155840.12:c.684-97_684-96del MANE Select	ENSP00000155840.2:n.684-97_684-96del
ENST00000335475.6:c.303-97_303-96del	ENSP00000334497.5:n.303-97_303-96del
ENST00000646564.1:c.124-11519_124-11518del	ENSP00000495806.1:n.124-11519_124-11518del
ENST00000155840.9:c.684-97_684-96del	ENSP00000155840.2:n.684-97_684-96del
ENST00000335475.5:c.303-97_303-96del	ENSP00000334497.5:n.303-97_303-96del
ENST00000496887.6:c.423-97_423-96del	ENSP00000434560.1:n.423-97_423-96del
NM_000218.2:c.684-97_684-96del , LRG_287t1:c.684-97_684-96del	NP_000209.2:n.684-97_684-96del
NM_181798.1:c.303-97_303-96del , LRG_287t2:c.303-97_303-96del	NP_861463.1:n.303-97_303-96del
NM_000218.3:c.684-97_684-96del MANE Select	NP_000209.2:n.684-97_684-96del