Canonical Allele Identifier: CA005779

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662022C>T , CM000673.2:g.2662022C>T	GRCh38
NC_000011.9:g.2683252C>T , CM000673.1:g.2683252C>T	GRCh37
NC_000011.8:g.2639828C>T	NCBI36
NG_008935.1:g.222032C>T , LRG_287:g.222032C>T
NG_016178.2:g.42977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1098C>T (KCNQ1)	ENSP00000434560.2:p.Phe366=
ENST00000646564.2:c.915C>T (KCNQ1)	ENSP00000495806.2:p.Phe305=
ENST00000155840.12:c.1455C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Phe485=
ENST00000335475.6:c.1074C>T (KCNQ1)	ENSP00000334497.5:p.Phe358=
ENST00000646564.1:c.561C>T (KCNQ1)	ENSP00000495806.1:p.Phe187=
ENST00000155840.9:c.1455C>T (KCNQ1)	ENSP00000155840.2:p.Phe485=
ENST00000335475.5:c.1074C>T (KCNQ1)	ENSP00000334497.5:p.Phe358=
NM_000218.2:c.1455C>T , LRG_287t1:c.1455C>T (KCNQ1)	NP_000209.2:p.Phe485=
NM_181798.1:c.1074C>T , LRG_287t2:c.1074C>T (KCNQ1)	NP_861463.1:p.Phe358=
NR_002728.3:n.37977G>A (KCNQ1OT1)
NM_000218.3:c.1455C>T (KCNQ1) MANE Select	NP_000209.2:p.Phe485=