Canonical Allele Identifier: CA1948229107

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585284C= , CM000673.2:g.2585284C=	GRCh38
NC_000011.9:g.2606514C= , CM000673.1:g.2606514C=	GRCh37
NC_000011.8:g.2563090C=	NCBI36
NG_008935.1:g.145294C= , LRG_287:g.145294C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1739C=	ENSP00000434560.2:n.771+1739C=
ENST00000646564.2:c.588+1739C=	ENSP00000495806.2:n.588+1739C=
ENST00000155840.12:c.1105C= MANE Select	ENSP00000155840.2:p.Pro369=
ENST00000335475.6:c.724C=	ENSP00000334497.5:p.Pro242=
ENST00000646564.1:c.234+1739C=	ENSP00000495806.1:n.234+1739C=
ENST00000155840.9:c.1105C=	ENSP00000155840.2:p.Pro369=
ENST00000335475.5:c.724C=	ENSP00000334497.5:p.Pro242=
NM_000218.2:c.1105C= , LRG_287t1:c.1105C=	NP_000209.2:p.Pro369=
NM_181798.1:c.724C= , LRG_287t2:c.724C=	NP_861463.1:p.Pro242=
NM_000218.3:c.1105C= MANE Select	NP_000209.2:p.Pro369=