Canonical Allele Identifier: CA472039163

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2567550
• ClinVar RCV Id: RCV003311293 ; RCV003777259
• dbSNP Id: rs756413033
• gnomAD v2: 11-2608868-C-T
• gnomAD v4: 11-2587638-C-T
• MyVariant Identifiers: chr11:g.2608868C>T (hg19) ; chr11:g.2587638C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587638C>T , CM000673.2:g.2587638C>T	GRCh38
NC_000011.9:g.2608868C>T , CM000673.1:g.2608868C>T	GRCh37
NC_000011.8:g.2565444C>T	NCBI36
NG_008935.1:g.147648C>T , LRG_287:g.147648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.840C>T	ENSP00000434560.2:p.Ala280=
ENST00000646564.2:c.657C>T	ENSP00000495806.2:p.Ala219=
ENST00000155840.12:c.1197C>T MANE Select	ENSP00000155840.2:p.Ala399=
ENST00000335475.6:c.816C>T	ENSP00000334497.5:p.Ala272=
ENST00000646564.1:c.303C>T	ENSP00000495806.1:p.Ala101=
ENST00000155840.9:c.1197C>T	ENSP00000155840.2:p.Ala399=
ENST00000335475.5:c.816C>T	ENSP00000334497.5:p.Ala272=
NM_000218.2:c.1197C>T , LRG_287t1:c.1197C>T	NP_000209.2:p.Ala399=
NM_181798.1:c.816C>T , LRG_287t2:c.816C>T	NP_861463.1:p.Ala272=
NM_000218.3:c.1197C>T MANE Select	NP_000209.2:p.Ala399=