Canonical Allele Identifier: CA216311523

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 925699
• ClinVar RCV Id: RCV001841014
• dbSNP Id: rs751869667
• MyVariant Identifiers: chr11:g.2593249C>A (hg19) ; chr11:g.2572019C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572019C>A , CM000673.2:g.2572019C>A	GRCh38
NC_000011.9:g.2593249C>A , CM000673.1:g.2593249C>A	GRCh37
NC_000011.8:g.2549825C>A	NCBI36
NG_008935.1:g.132029C>A , LRG_287:g.132029C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.429C>A	ENSP00000434560.2:p.Ile143=
ENST00000646564.2:c.478-11416C>A	ENSP00000495806.2:n.478-11416C>A
ENST00000155840.12:c.690C>A MANE Select	ENSP00000155840.2:p.Ile230=
ENST00000335475.6:c.309C>A	ENSP00000334497.5:p.Ile103=
ENST00000646564.1:c.124-11416C>A	ENSP00000495806.1:n.124-11416C>A
ENST00000155840.9:c.690C>A	ENSP00000155840.2:p.Ile230=
ENST00000335475.5:c.309C>A	ENSP00000334497.5:p.Ile103=
ENST00000496887.6:c.429C>A	ENSP00000434560.1:p.Ile143=
NM_000218.2:c.690C>A , LRG_287t1:c.690C>A	NP_000209.2:p.Ile230=
NM_181798.1:c.309C>A , LRG_287t2:c.309C>A	NP_861463.1:p.Ile103=
NM_000218.3:c.690C>A MANE Select	NP_000209.2:p.Ile230=