Canonical Allele Identifier: CA007979

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67098
• ClinVar RCV Id: RCV000057737
• dbSNP Id: rs199472711
• MyVariant Identifiers: chr11:g.2593281T>G (hg19) ; chr11:g.2572051T>G (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572051T>G , CM000673.2:g.2572051T>G	GRCh38
NC_000011.9:g.2593281T>G , CM000673.1:g.2593281T>G	GRCh37
NC_000011.8:g.2549857T>G	NCBI36
NG_008935.1:g.132061T>G , LRG_287:g.132061T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.461T>G	ENSP00000434560.2:p.Val154Gly
ENST00000646564.2:c.478-11384T>G	ENSP00000495806.2:n.478-11384T>G
ENST00000155840.12:c.722T>G MANE Select	ENSP00000155840.2:p.Val241Gly
ENST00000335475.6:c.341T>G	ENSP00000334497.5:p.Val114Gly
ENST00000646564.1:c.124-11384T>G	ENSP00000495806.1:n.124-11384T>G
ENST00000155840.9:c.722T>G	ENSP00000155840.2:p.Val241Gly
ENST00000335475.5:c.341T>G	ENSP00000334497.5:p.Val114Gly
ENST00000496887.6:c.461T>G	ENSP00000434560.1:p.Val154Gly
NM_000218.2:c.722T>G , LRG_287t1:c.722T>G	NP_000209.2:p.Val241Gly
NM_181798.1:c.341T>G , LRG_287t2:c.341T>G	NP_861463.1:p.Val114Gly
NM_000218.3:c.722T>G MANE Select	NP_000209.2:p.Val241Gly