Canonical Allele Identifier: CA004959

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200900
• ClinVar RCV Id: RCV000182313 ; RCV003532030
• dbSNP Id: rs199472763
• MyVariant Identifiers: chr11:g.2604774C>G (hg19) ; chr11:g.2583544C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583544C>G , CM000673.2:g.2583544C>G	GRCh38
NC_000011.9:g.2604774C>G , CM000673.1:g.2604774C>G	GRCh37
NC_000011.8:g.2561350C>G	NCBI36
NG_008935.1:g.143554C>G , LRG_287:g.143554C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.770C>G	ENSP00000434560.2:p.Ala257Gly
ENST00000646564.2:c.587C>G	ENSP00000495806.2:p.Ala196Gly
ENST00000155840.12:c.1031C>G MANE Select	ENSP00000155840.2:p.Ala344Gly
ENST00000335475.6:c.650C>G	ENSP00000334497.5:p.Ala217Gly
ENST00000646564.1:c.233C>G	ENSP00000495806.1:p.Ala78Gly
ENST00000155840.9:c.1031C>G	ENSP00000155840.2:p.Ala344Gly
ENST00000335475.5:c.650C>G	ENSP00000334497.5:p.Ala217Gly
NM_000218.2:c.1031C>G , LRG_287t1:c.1031C>G	NP_000209.2:p.Ala344Gly
NM_181798.1:c.650C>G , LRG_287t2:c.650C>G	NP_861463.1:p.Ala217Gly
NM_000218.3:c.1031C>G MANE Select	NP_000209.2:p.Ala344Gly