Canonical Allele Identifier: CA007766

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53079
• ClinVar RCV Id: RCV000046098 ; RCV000057722 ; RCV001507784
• dbSNP Id: rs199473455
• MyVariant Identifiers: chr11:g.2592562C>G (hg19) ; chr11:g.2571332C>G (hg38)
• PubMed: PMID:16414944 ; PMID:19716085 ; PMID:20421371 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571332C>G , CM000673.2:g.2571332C>G	GRCh38
NC_000011.9:g.2592562C>G , CM000673.1:g.2592562C>G	GRCh37
NC_000011.8:g.2549138C>G	NCBI36
NG_008935.1:g.131342C>G , LRG_287:g.131342C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.351C>G	ENSP00000434560.2:p.Ile117Met
ENST00000646564.2:c.478-12103C>G	ENSP00000495806.2:n.478-12103C>G
ENST00000155840.12:c.612C>G MANE Select	ENSP00000155840.2:p.Ile204Met
ENST00000335475.6:c.231C>G	ENSP00000334497.5:p.Ile77Met
ENST00000646564.1:c.124-12103C>G	ENSP00000495806.1:n.124-12103C>G
ENST00000155840.9:c.612C>G	ENSP00000155840.2:p.Ile204Met
ENST00000335475.5:c.231C>G	ENSP00000334497.5:p.Ile77Met
ENST00000496887.6:c.351C>G	ENSP00000434560.1:p.Ile117Met
NM_000218.2:c.612C>G , LRG_287t1:c.612C>G	NP_000209.2:p.Ile204Met
NM_181798.1:c.231C>G , LRG_287t2:c.231C>G	NP_861463.1:p.Ile77Met
NM_000218.3:c.612C>G MANE Select	NP_000209.2:p.Ile204Met