Canonical Allele Identifier: CA1948239469

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570651_2570652delinsCG , CM000673.2:g.2570651_2570652delinsCG	GRCh38
NC_000011.9:g.2591881_2591882delinsCG , CM000673.1:g.2591881_2591882delinsCG	GRCh37
NC_000011.8:g.2548457_2548458delinsCG	NCBI36
NG_008935.1:g.130661_130662delinsCG , LRG_287:g.130661_130662delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.240_241delinsCG	ENSP00000434560.2:p.Phe80=
ENST00000646564.2:c.478-12784_478-12783delinsCG	ENSP00000495806.2:n.478-12784_478-12783delinsCG
ENST00000155840.12:c.501_502delinsCG MANE Select	ENSP00000155840.2:p.Phe167=
ENST00000335475.6:c.120_121delinsCG	ENSP00000334497.5:p.Phe40=
ENST00000646564.1:c.124-12784_124-12783delinsCG	ENSP00000495806.1:n.124-12784_124-12783delinsCG
ENST00000155840.9:c.501_502delinsCG	ENSP00000155840.2:p.Phe167=
ENST00000335475.5:c.120_121delinsCG	ENSP00000334497.5:p.Phe40=
ENST00000496887.6:c.240_241delinsCG	ENSP00000434560.1:p.Phe80=
NM_000218.2:c.501_502delinsCG , LRG_287t1:c.501_502delinsCG	NP_000209.2:p.Phe167=
NM_181798.1:c.120_121delinsCG , LRG_287t2:c.120_121delinsCG	NP_861463.1:p.Phe40=
NM_000218.3:c.501_502delinsCG MANE Select	NP_000209.2:p.Phe167=