Canonical Allele Identifier: CA008798

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67126
• ClinVar RCV Id: RCV000057814
• dbSNP Id: rs199472748
• MyVariant Identifiers: chr11:g.2604684G>C (hg19) ; chr11:g.2583454G>C (hg38)
• PubMed: PMID:15028050 ; PMID:15234419 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583454G>C , CM000673.2:g.2583454G>C	GRCh38
NC_000011.9:g.2604684G>C , CM000673.1:g.2604684G>C	GRCh37
NC_000011.8:g.2561260G>C	NCBI36
NG_008935.1:g.143464G>C , LRG_287:g.143464G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.680G>C	ENSP00000434560.2:p.Gly227Ala
ENST00000646564.2:c.497G>C	ENSP00000495806.2:p.Gly166Ala
ENST00000155840.12:c.941G>C MANE Select	ENSP00000155840.2:p.Gly314Ala
ENST00000335475.6:c.560G>C	ENSP00000334497.5:p.Gly187Ala
ENST00000646564.1:c.143G>C	ENSP00000495806.1:p.Gly48Ala
ENST00000155840.9:c.941G>C	ENSP00000155840.2:p.Gly314Ala
ENST00000335475.5:c.560G>C	ENSP00000334497.5:p.Gly187Ala
NM_000218.2:c.941G>C , LRG_287t1:c.941G>C	NP_000209.2:p.Gly314Ala
NM_181798.1:c.560G>C , LRG_287t2:c.560G>C	NP_861463.1:p.Gly187Ala
NM_000218.3:c.941G>C MANE Select	NP_000209.2:p.Gly314Ala