Canonical Allele Identifier: CA1948309949

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768855_2768856delinsAC , CM000673.2:g.2768855_2768856delinsAC	GRCh38
NC_000011.9:g.2790085_2790086delinsAC , CM000673.1:g.2790085_2790086delinsAC	GRCh37
NC_000011.8:g.2746661_2746662delinsAC	NCBI36
NG_008935.1:g.328865_328866delinsAC , LRG_287:g.328865_328866delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1169_1170delinsAC	ENSP00000434560.2:p.His390=
ENST00000646564.2:c.986_987delinsAC	ENSP00000495806.2:p.His329=
ENST00000155840.12:c.1526_1527delinsAC MANE Select	ENSP00000155840.2:p.His509=
ENST00000335475.6:c.1145_1146delinsAC	ENSP00000334497.5:p.His382=
ENST00000646564.1:c.632_633delinsAC	ENSP00000495806.1:p.His211=
ENST00000155840.9:c.1526_1527delinsAC	ENSP00000155840.2:p.His509=
ENST00000335475.5:c.1145_1146delinsAC	ENSP00000334497.5:p.His382=
NM_000218.2:c.1526_1527delinsAC , LRG_287t1:c.1526_1527delinsAC	NP_000209.2:p.His509=
NM_181798.1:c.1145_1146delinsAC , LRG_287t2:c.1145_1146delinsAC	NP_861463.1:p.His382=
NM_000218.3:c.1526_1527delinsAC MANE Select	NP_000209.2:p.His509=