Canonical Allele Identifier: CA379132985

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1056776
• ClinVar RCV Id: RCV001365655
• dbSNP Id: rs199472750
• MyVariant Identifiers: chr11:g.2604693A>C (hg19) ; chr11:g.2583463A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583463A>C , CM000673.2:g.2583463A>C	GRCh38
NC_000011.9:g.2604693A>C , CM000673.1:g.2604693A>C	GRCh37
NC_000011.8:g.2561269A>C	NCBI36
NG_008935.1:g.143473A>C , LRG_287:g.143473A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.689A>C	ENSP00000434560.2:p.Asp230Ala
ENST00000646564.2:c.506A>C	ENSP00000495806.2:p.Asp169Ala
ENST00000155840.12:c.950A>C MANE Select	ENSP00000155840.2:p.Asp317Ala
ENST00000335475.6:c.569A>C	ENSP00000334497.5:p.Asp190Ala
ENST00000646564.1:c.152A>C	ENSP00000495806.1:p.Asp51Ala
ENST00000155840.9:c.950A>C	ENSP00000155840.2:p.Asp317Ala
ENST00000335475.5:c.569A>C	ENSP00000334497.5:p.Asp190Ala
NM_000218.2:c.950A>C , LRG_287t1:c.950A>C	NP_000209.2:p.Asp317Ala
NM_181798.1:c.569A>C , LRG_287t2:c.569A>C	NP_861463.1:p.Asp190Ala
NM_000218.3:c.950A>C MANE Select	NP_000209.2:p.Asp317Ala