Canonical Allele Identifier: CA472038182

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 921627
• ClinVar RCV Id: RCV001843084 ; RCV004006722
• dbSNP Id: rs1848362899
• gnomAD v4: 11-2572938-A-G
• MyVariant Identifiers: chr11:g.2594168A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572938A>G , CM000673.2:g.2572938A>G	GRCh38
NC_000011.9:g.2594168A>G , CM000673.1:g.2594168A>G	GRCh37
NC_000011.8:g.2550744A>G	NCBI36
NG_008935.1:g.132948A>G , LRG_287:g.132948A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.612A>G	ENSP00000434560.2:p.Ser204=
ENST00000646564.2:c.478-10497A>G	ENSP00000495806.2:n.478-10497A>G
ENST00000155840.12:c.873A>G MANE Select	ENSP00000155840.2:p.Ser291=
ENST00000335475.6:c.492A>G	ENSP00000334497.5:p.Ser164=
ENST00000646564.1:c.124-10497A>G	ENSP00000495806.1:n.124-10497A>G
ENST00000155840.9:c.873A>G	ENSP00000155840.2:p.Ser291=
ENST00000335475.5:c.492A>G	ENSP00000334497.5:p.Ser164=
NM_000218.2:c.873A>G , LRG_287t1:c.873A>G	NP_000209.2:p.Ser291=
NM_181798.1:c.492A>G , LRG_287t2:c.492A>G	NP_861463.1:p.Ser164=
NM_000218.3:c.873A>G MANE Select	NP_000209.2:p.Ser291=