Canonical Allele Identifier: CA379130903

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1524734
• ClinVar RCV Id: RCV002049646
• dbSNP Id: rs199472708
• MyVariant Identifiers: chr11:g.2593245G>T (hg19) ; chr11:g.2572015G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572015G>T , CM000673.2:g.2572015G>T	GRCh38
NC_000011.9:g.2593245G>T , CM000673.1:g.2593245G>T	GRCh37
NC_000011.8:g.2549821G>T	NCBI36
NG_008935.1:g.132025G>T , LRG_287:g.132025G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.425G>T	ENSP00000434560.2:p.Gly142Val
ENST00000646564.2:c.478-11420G>T	ENSP00000495806.2:n.478-11420G>T
ENST00000155840.12:c.686G>T MANE Select	ENSP00000155840.2:p.Gly229Val
ENST00000335475.6:c.305G>T	ENSP00000334497.5:p.Gly102Val
ENST00000646564.1:c.124-11420G>T	ENSP00000495806.1:n.124-11420G>T
ENST00000155840.9:c.686G>T	ENSP00000155840.2:p.Gly229Val
ENST00000335475.5:c.305G>T	ENSP00000334497.5:p.Gly102Val
ENST00000496887.6:c.425G>T	ENSP00000434560.1:p.Gly142Val
NM_000218.2:c.686G>T , LRG_287t1:c.686G>T	NP_000209.2:p.Gly229Val
NM_181798.1:c.305G>T , LRG_287t2:c.305G>T	NP_861463.1:p.Gly102Val
NM_000218.3:c.686G>T MANE Select	NP_000209.2:p.Gly229Val