Canonical Allele Identifier: CA008623

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3127
• ClinVar RCV Id: RCV000003275 ; RCV000057796 ; RCV000182130 ; RCV000622153 ; RCV001385529
• dbSNP Id: rs120074186
• ExAC: 11:2594209 G / C
• gnomAD v2: 11-2594209-G-C
• gnomAD v4: 11-2572979-G-C
• MyVariant Identifiers: chr11:g.2594209G>C (hg19) ; chr11:g.2572979G>C (hg38)
• PubMed: PMID:9312006 ; PMID:9781056 ; PMID:15840476 ; PMID:17999538 ; PMID:18004376 ; PMID:19716085 ; PMID:21451124 ; PMID:22456477 ; PMID:22581653 ; PMID:23158531 ; PMID:26344792 ; PMID:26669661

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572979G>C , CM000673.2:g.2572979G>C	GRCh38
NC_000011.9:g.2594209G>C , CM000673.1:g.2594209G>C	GRCh37
NC_000011.8:g.2550785G>C	NCBI36
NG_008935.1:g.132989G>C , LRG_287:g.132989G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.653G>C	ENSP00000434560.2:p.Trp218Ser
ENST00000646564.2:c.478-10456G>C	ENSP00000495806.2:n.478-10456G>C
ENST00000155840.12:c.914G>C MANE Select	ENSP00000155840.2:p.Trp305Ser
ENST00000335475.6:c.533G>C	ENSP00000334497.5:p.Trp178Ser
ENST00000646564.1:c.124-10456G>C	ENSP00000495806.1:n.124-10456G>C
ENST00000155840.9:c.914G>C	ENSP00000155840.2:p.Trp305Ser
ENST00000335475.5:c.533G>C	ENSP00000334497.5:p.Trp178Ser
NM_000218.2:c.914G>C , LRG_287t1:c.914G>C	NP_000209.2:p.Trp305Ser
NM_181798.1:c.533G>C , LRG_287t2:c.533G>C	NP_861463.1:p.Trp178Ser
NM_000218.3:c.914G>C MANE Select	NP_000209.2:p.Trp305Ser