Canonical Allele Identifier: CA379139791

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799260A>C (hg19) ; chr11:g.2778030A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778030A>C , CM000673.2:g.2778030A>C	GRCh38
NC_000011.9:g.2799260A>C , CM000673.1:g.2799260A>C	GRCh37
NC_000011.8:g.2755836A>C	NCBI36
NG_008935.1:g.338040A>C , LRG_287:g.338040A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1430A>C	ENSP00000434560.2:p.Glu477Ala
ENST00000646564.2:c.1247A>C	ENSP00000495806.2:p.Glu416Ala
ENST00000155840.12:c.1787A>C MANE Select	ENSP00000155840.2:p.Glu596Ala
ENST00000335475.6:c.1406A>C	ENSP00000334497.5:p.Glu469Ala
ENST00000526095.2:c.191A>C	ENSP00000494939.1:p.Glu64Ala
ENST00000646564.1:c.893A>C	ENSP00000495806.1:p.Glu298Ala
ENST00000155840.9:c.1787A>C	ENSP00000155840.2:p.Glu596Ala
ENST00000335475.5:c.1406A>C	ENSP00000334497.5:p.Glu469Ala
ENST00000526095.1:n.294A>C
NM_000218.2:c.1787A>C , LRG_287t1:c.1787A>C	NP_000209.2:p.Glu596Ala
NM_181798.1:c.1406A>C , LRG_287t2:c.1406A>C	NP_861463.1:p.Glu469Ala
NM_000218.3:c.1787A>C MANE Select	NP_000209.2:p.Glu596Ala