Canonical Allele Identifier: CA008901

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53147
• ClinVar RCV Id: RCV000057826
• dbSNP Id: rs199472753
• MyVariant Identifiers: chr11:g.2604701C>G (hg19) ; chr11:g.2583471C>G (hg38)
• PubMed: PMID:9386136 ; PMID:19540844 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583471C>G , CM000673.2:g.2583471C>G	GRCh38
NC_000011.9:g.2604701C>G , CM000673.1:g.2604701C>G	GRCh37
NC_000011.8:g.2561277C>G	NCBI36
NG_008935.1:g.143481C>G , LRG_287:g.143481C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.697C>G	ENSP00000434560.2:p.Pro233Ala
ENST00000646564.2:c.514C>G	ENSP00000495806.2:p.Pro172Ala
ENST00000155840.12:c.958C>G MANE Select	ENSP00000155840.2:p.Pro320Ala
ENST00000335475.6:c.577C>G	ENSP00000334497.5:p.Pro193Ala
ENST00000646564.1:c.160C>G	ENSP00000495806.1:p.Pro54Ala
ENST00000155840.9:c.958C>G	ENSP00000155840.2:p.Pro320Ala
ENST00000335475.5:c.577C>G	ENSP00000334497.5:p.Pro193Ala
NM_000218.2:c.958C>G , LRG_287t1:c.958C>G	NP_000209.2:p.Pro320Ala
NM_181798.1:c.577C>G , LRG_287t2:c.577C>G	NP_861463.1:p.Pro193Ala
NM_000218.3:c.958C>G MANE Select	NP_000209.2:p.Pro320Ala