Canonical Allele Identifier: CA379479615

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662026G>A , CM000673.2:g.2662026G>A	GRCh38
NC_000011.9:g.2683256G>A , CM000673.1:g.2683256G>A	GRCh37
NC_000011.8:g.2639832G>A	NCBI36
NG_008935.1:g.222036G>A , LRG_287:g.222036G>A
NG_016178.2:g.42973C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1459G>A (KCNQ1) MANE Select	NP_000209.2:p.Glu487Lys
ENST00000155840.12:c.1459G>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Glu487Lys
NM_000218.2:c.1459G>A , LRG_287t1:c.1459G>A (KCNQ1)	NP_000209.2:p.Glu487Lys
NM_181798.1:c.1078G>A , LRG_287t2:c.1078G>A (KCNQ1)	NP_861463.1:p.Glu360Lys
NR_002728.3:n.37973C>T (KCNQ1OT1)
ENST00000155840.9:c.1459G>A (KCNQ1)	ENSP00000155840.2:p.Glu487Lys
ENST00000335475.5:c.1078G>A (KCNQ1)	ENSP00000334497.5:p.Glu360Lys
ENST00000335475.6:c.1078G>A (KCNQ1)	ENSP00000334497.5:p.Glu360Lys
ENST00000496887.7:c.1102G>A (KCNQ1)	ENSP00000434560.2:p.Glu368Lys
ENST00000646564.1:c.565G>A (KCNQ1)	ENSP00000495806.1:p.Glu189Lys
ENST00000646564.2:c.919G>A (KCNQ1)	ENSP00000495806.2:p.Glu307Lys