Canonical Allele Identifier: CA008930

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200829
• ClinVar RCV Id: RCV001339199
• dbSNP Id: rs794728518
• MyVariant Identifiers: chr11:g.2604705A>C (hg19) ; chr11:g.2583475A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583475A>C , CM000673.2:g.2583475A>C	GRCh38
NC_000011.9:g.2604705A>C , CM000673.1:g.2604705A>C	GRCh37
NC_000011.8:g.2561281A>C	NCBI36
NG_008935.1:g.143485A>C , LRG_287:g.143485A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.701A>C	ENSP00000434560.2:p.Gln234Pro
ENST00000646564.2:c.518A>C	ENSP00000495806.2:p.Gln173Pro
ENST00000155840.12:c.962A>C MANE Select	ENSP00000155840.2:p.Gln321Pro
ENST00000335475.6:c.581A>C	ENSP00000334497.5:p.Gln194Pro
ENST00000646564.1:c.164A>C	ENSP00000495806.1:p.Gln55Pro
ENST00000155840.9:c.962A>C	ENSP00000155840.2:p.Gln321Pro
ENST00000335475.5:c.581A>C	ENSP00000334497.5:p.Gln194Pro
NM_000218.2:c.962A>C , LRG_287t1:c.962A>C	NP_000209.2:p.Gln321Pro
NM_181798.1:c.581A>C , LRG_287t2:c.581A>C	NP_861463.1:p.Gln194Pro
NM_000218.3:c.962A>C MANE Select	NP_000209.2:p.Gln321Pro