Canonical Allele Identifier: CA1948212334

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572970C= , CM000673.2:g.2572970C=	GRCh38
NC_000011.9:g.2594200C= , CM000673.1:g.2594200C=	GRCh37
NC_000011.8:g.2550776C=	NCBI36
NG_008935.1:g.132980C= , LRG_287:g.132980C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.644C=	ENSP00000434560.2:p.Ala215=
ENST00000646564.2:c.478-10465C=	ENSP00000495806.2:n.478-10465C=
ENST00000155840.12:c.905C= MANE Select	ENSP00000155840.2:p.Ala302=
ENST00000335475.6:c.524C=	ENSP00000334497.5:p.Ala175=
ENST00000646564.1:c.124-10465C=	ENSP00000495806.1:n.124-10465C=
ENST00000155840.9:c.905C=	ENSP00000155840.2:p.Ala302=
ENST00000335475.5:c.524C=	ENSP00000334497.5:p.Ala175=
NM_000218.2:c.905C= , LRG_287t1:c.905C=	NP_000209.2:p.Ala302=
NM_181798.1:c.524C= , LRG_287t2:c.524C=	NP_861463.1:p.Ala175=
NM_000218.3:c.905C= MANE Select	NP_000209.2:p.Ala302=