Canonical Allele Identifier: CA379133010

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 960695
• ClinVar RCV Id: RCV001234269
• dbSNP Id: rs199472754
• MyVariant Identifiers: chr11:g.2604707A>C (hg19) ; chr11:g.2583477A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583477A>C , CM000673.2:g.2583477A>C	GRCh38
NC_000011.9:g.2604707A>C , CM000673.1:g.2604707A>C	GRCh37
NC_000011.8:g.2561283A>C	NCBI36
NG_008935.1:g.143487A>C , LRG_287:g.143487A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.703A>C	ENSP00000434560.2:p.Thr235Pro
ENST00000646564.2:c.520A>C	ENSP00000495806.2:p.Thr174Pro
ENST00000155840.12:c.964A>C MANE Select	ENSP00000155840.2:p.Thr322Pro
ENST00000335475.6:c.583A>C	ENSP00000334497.5:p.Thr195Pro
ENST00000646564.1:c.166A>C	ENSP00000495806.1:p.Thr56Pro
ENST00000155840.9:c.964A>C	ENSP00000155840.2:p.Thr322Pro
ENST00000335475.5:c.583A>C	ENSP00000334497.5:p.Thr195Pro
NM_000218.2:c.964A>C , LRG_287t1:c.964A>C	NP_000209.2:p.Thr322Pro
NM_181798.1:c.583A>C , LRG_287t2:c.583A>C	NP_861463.1:p.Thr195Pro
NM_000218.3:c.964A>C MANE Select	NP_000209.2:p.Thr322Pro