Canonical Allele Identifier: CA1948314048

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776009_2776010delinsAG , CM000673.2:g.2776009_2776010delinsAG	GRCh38
NC_000011.9:g.2797239_2797240delinsAG , CM000673.1:g.2797239_2797240delinsAG	GRCh37
NC_000011.8:g.2753815_2753816delinsAG	NCBI36
NG_008935.1:g.336019_336020delinsAG , LRG_287:g.336019_336020delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1283_1284delinsAG	ENSP00000434560.2:p.Gln428=
ENST00000646564.2:c.1100_1101delinsAG	ENSP00000495806.2:p.Gln367=
ENST00000155840.12:c.1640_1641delinsAG MANE Select	ENSP00000155840.2:p.Gln547=
ENST00000335475.6:c.1259_1260delinsAG	ENSP00000334497.5:p.Gln420=
ENST00000646564.1:c.746_747delinsAG	ENSP00000495806.1:p.Gln249=
ENST00000155840.9:c.1640_1641delinsAG	ENSP00000155840.2:p.Gln547=
ENST00000335475.5:c.1259_1260delinsAG	ENSP00000334497.5:p.Gln420=
NM_000218.2:c.1640_1641delinsAG , LRG_287t1:c.1640_1641delinsAG	NP_000209.2:p.Gln547=
NM_181798.1:c.1259_1260delinsAG , LRG_287t2:c.1259_1260delinsAG	NP_861463.1:p.Gln420=
NM_000218.3:c.1640_1641delinsAG MANE Select	NP_000209.2:p.Gln547=