Canonical Allele Identifier: CA16613511

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 405263
• ClinVar RCV Id: RCV000467059
• dbSNP Id: rs1060500627
• MyVariant Identifiers: chr11:g.2594142G>C (hg19) ; chr11:g.2572912G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572912G>C , CM000673.2:g.2572912G>C	GRCh38
NC_000011.9:g.2594142G>C , CM000673.1:g.2594142G>C	GRCh37
NC_000011.8:g.2550718G>C	NCBI36
NG_008935.1:g.132922G>C , LRG_287:g.132922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.586G>C	ENSP00000434560.2:p.Ala196Pro
ENST00000646564.2:c.478-10523G>C	ENSP00000495806.2:n.478-10523G>C
ENST00000155840.12:c.847G>C MANE Select	ENSP00000155840.2:p.Ala283Pro
ENST00000335475.6:c.466G>C	ENSP00000334497.5:p.Ala156Pro
ENST00000646564.1:c.124-10523G>C	ENSP00000495806.1:n.124-10523G>C
ENST00000155840.9:c.847G>C	ENSP00000155840.2:p.Ala283Pro
ENST00000335475.5:c.466G>C	ENSP00000334497.5:p.Ala156Pro
NM_000218.2:c.847G>C , LRG_287t1:c.847G>C	NP_000209.2:p.Ala283Pro
NM_181798.1:c.466G>C , LRG_287t2:c.466G>C	NP_861463.1:p.Ala156Pro
NM_000218.3:c.847G>C MANE Select	NP_000209.2:p.Ala283Pro