Canonical Allele Identifier: CA472038501

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 757527
• ClinVar RCV Id: RCV001400212 ; RCV002445063
• dbSNP Id: rs1589967006
• gnomAD v4: 11-2585268-C-T
• MyVariant Identifiers: chr11:g.2606498C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585268C>T , CM000673.2:g.2585268C>T	GRCh38
NC_000011.9:g.2606498C>T , CM000673.1:g.2606498C>T	GRCh37
NC_000011.8:g.2563074C>T	NCBI36
NG_008935.1:g.145278C>T , LRG_287:g.145278C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1723C>T	ENSP00000434560.2:n.771+1723C>T
ENST00000646564.2:c.588+1723C>T	ENSP00000495806.2:n.588+1723C>T
ENST00000155840.12:c.1089C>T MANE Select	ENSP00000155840.2:p.His363=
ENST00000335475.6:c.708C>T	ENSP00000334497.5:p.His236=
ENST00000646564.1:c.234+1723C>T	ENSP00000495806.1:n.234+1723C>T
ENST00000155840.9:c.1089C>T	ENSP00000155840.2:p.His363=
ENST00000335475.5:c.708C>T	ENSP00000334497.5:p.His236=
NM_000218.2:c.1089C>T , LRG_287t1:c.1089C>T	NP_000209.2:p.His363=
NM_181798.1:c.708C>T , LRG_287t2:c.708C>T	NP_861463.1:p.His236=
NM_000218.3:c.1089C>T MANE Select	NP_000209.2:p.His363=