Canonical Allele Identifier: CA1948240435

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570770C= , CM000673.2:g.2570770C=	GRCh38
NC_000011.9:g.2592000C= , CM000673.1:g.2592000C=	GRCh37
NC_000011.8:g.2548576C=	NCBI36
NG_008935.1:g.130780C= , LRG_287:g.130780C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.343+16C=	ENSP00000434560.2:n.343+16C=
ENST00000646564.2:c.478-12665C=	ENSP00000495806.2:n.478-12665C=
ENST00000155840.12:c.604+16C= MANE Select	ENSP00000155840.2:n.604+16C=
ENST00000335475.6:c.223+16C=	ENSP00000334497.5:n.223+16C=
ENST00000646564.1:c.124-12665C=	ENSP00000495806.1:n.124-12665C=
ENST00000155840.9:c.604+16C=	ENSP00000155840.2:n.604+16C=
ENST00000335475.5:c.223+16C=	ENSP00000334497.5:n.223+16C=
ENST00000496887.6:c.343+16C=	ENSP00000434560.1:n.343+16C=
NM_000218.2:c.604+16C= , LRG_287t1:c.604+16C=	NP_000209.2:n.604+16C=
NM_181798.1:c.223+16C= , LRG_287t2:c.223+16C=	NP_861463.1:n.223+16C=
NM_000218.3:c.604+16C= MANE Select	NP_000209.2:n.604+16C=