Canonical Allele Identifier: CA006239

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53010
• ClinVar RCV Id: RCV000057623 ; RCV000239705 ; RCV002408546
• dbSNP Id: rs199472806
• MyVariant Identifiers: chr11:g.2798233G>C (hg19) ; chr11:g.2777003G>C (hg38)
• PubMed: PMID:12702160 ; PMID:22581653 ; PMID:27485560

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777003G>C , CM000673.2:g.2777003G>C	GRCh38
NC_000011.9:g.2798233G>C , CM000673.1:g.2798233G>C	GRCh37
NC_000011.8:g.2754809G>C	NCBI36
NG_008935.1:g.337013G>C , LRG_287:g.337013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1346G>C	ENSP00000434560.2:p.Gly449Ala
ENST00000646564.2:c.1163G>C	ENSP00000495806.2:p.Gly388Ala
ENST00000155840.12:c.1703G>C MANE Select	ENSP00000155840.2:p.Gly568Ala
ENST00000335475.6:c.1322G>C	ENSP00000334497.5:p.Gly441Ala
ENST00000646564.1:c.809G>C	ENSP00000495806.1:p.Gly270Ala
ENST00000155840.9:c.1703G>C	ENSP00000155840.2:p.Gly568Ala
ENST00000335475.5:c.1322G>C	ENSP00000334497.5:p.Gly441Ala
NM_000218.2:c.1703G>C , LRG_287t1:c.1703G>C	NP_000209.2:p.Gly568Ala
NM_181798.1:c.1322G>C , LRG_287t2:c.1322G>C	NP_861463.1:p.Gly441Ala
NM_000218.3:c.1703G>C MANE Select	NP_000209.2:p.Gly568Ala