Canonical Allele Identifier: CA379479619

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1459G>T (KCNQ1) MANE Select	NP_000209.2:p.Glu487Ter
ENST00000155840.12:c.1459G>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Glu487Ter
NM_000218.2:c.1459G>T , LRG_287t1:c.1459G>T (KCNQ1)	NP_000209.2:p.Glu487Ter
NM_181798.1:c.1078G>T , LRG_287t2:c.1078G>T (KCNQ1)	NP_861463.1:p.Glu360Ter
NR_002728.3:n.37973C>A (KCNQ1OT1)
ENST00000155840.9:c.1459G>T (KCNQ1)	ENSP00000155840.2:p.Glu487Ter
ENST00000335475.5:c.1078G>T (KCNQ1)	ENSP00000334497.5:p.Glu360Ter
ENST00000335475.6:c.1078G>T (KCNQ1)	ENSP00000334497.5:p.Glu360Ter
ENST00000496887.7:c.1102G>T (KCNQ1)	ENSP00000434560.2:p.Glu368Ter
ENST00000646564.1:c.565G>T (KCNQ1)	ENSP00000495806.1:p.Glu189Ter
ENST00000646564.2:c.919G>T (KCNQ1)	ENSP00000495806.2:p.Glu307Ter