Canonical Allele Identifier: CA004838

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52929
• ClinVar RCV Id: RCV000057525 ; RCV000182311 ; RCV000515709 ; RCV002336178 ; RCV002514220
• dbSNP Id: rs199472759
• MyVariant Identifiers: chr11:g.2604759T>C (hg19) ; chr11:g.2583529T>C (hg38)
• PubMed: PMID:17224687 ; PMID:17905336 ; PMID:19808498 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583529T>C , CM000673.2:g.2583529T>C	GRCh38
NC_000011.9:g.2604759T>C , CM000673.1:g.2604759T>C	GRCh37
NC_000011.8:g.2561335T>C	NCBI36
NG_008935.1:g.143539T>C , LRG_287:g.143539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.755T>C	ENSP00000434560.2:p.Phe252Ser
ENST00000646564.2:c.572T>C	ENSP00000495806.2:p.Phe191Ser
ENST00000155840.12:c.1016T>C MANE Select	ENSP00000155840.2:p.Phe339Ser
ENST00000335475.6:c.635T>C	ENSP00000334497.5:p.Phe212Ser
ENST00000646564.1:c.218T>C	ENSP00000495806.1:p.Phe73Ser
ENST00000155840.9:c.1016T>C	ENSP00000155840.2:p.Phe339Ser
ENST00000335475.5:c.635T>C	ENSP00000334497.5:p.Phe212Ser
NM_000218.2:c.1016T>C , LRG_287t1:c.1016T>C	NP_000209.2:p.Phe339Ser
NM_181798.1:c.635T>C , LRG_287t2:c.635T>C	NP_861463.1:p.Phe212Ser
NM_000218.3:c.1016T>C MANE Select	NP_000209.2:p.Phe339Ser