Canonical Allele Identifier: CA472038077

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2593304A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572074A>C , CM000673.2:g.2572074A>C	GRCh38
NC_000011.9:g.2593304A>C , CM000673.1:g.2593304A>C	GRCh37
NC_000011.8:g.2549880A>C	NCBI36
NG_008935.1:g.132084A>C , LRG_287:g.132084A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.484A>C	ENSP00000434560.2:p.Arg162=
ENST00000646564.2:c.478-11361A>C	ENSP00000495806.2:n.478-11361A>C
ENST00000155840.12:c.745A>C MANE Select	ENSP00000155840.2:p.Arg249=
ENST00000335475.6:c.364A>C	ENSP00000334497.5:p.Arg122=
ENST00000646564.1:c.124-11361A>C	ENSP00000495806.1:n.124-11361A>C
ENST00000155840.9:c.745A>C	ENSP00000155840.2:p.Arg249=
ENST00000335475.5:c.364A>C	ENSP00000334497.5:p.Arg122=
ENST00000496887.6:c.484A>C	ENSP00000434560.1:p.Arg162=
NM_000218.2:c.745A>C , LRG_287t1:c.745A>C	NP_000209.2:p.Arg249=
NM_181798.1:c.364A>C , LRG_287t2:c.364A>C	NP_861463.1:p.Arg122=
NM_000218.3:c.745A>C MANE Select	NP_000209.2:p.Arg249=