Canonical Allele Identifier: CA038523

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 920638
• ClinVar RCV Id: RCV001842779
• dbSNP Id: rs764634277
• ExAC: 11:2591953 G / T
• gnomAD v2: 11-2591953-G-T
• gnomAD v4: 11-2570723-G-T
• MyVariant Identifiers: chr11:g.2591953G>T (hg19) ; chr11:g.2570723G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570723G>T , CM000673.2:g.2570723G>T	GRCh38
NC_000011.9:g.2591953G>T , CM000673.1:g.2591953G>T	GRCh37
NC_000011.8:g.2548529G>T	NCBI36
NG_008935.1:g.130733G>T , LRG_287:g.130733G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.312G>T	ENSP00000434560.2:p.Leu104=
ENST00000646564.2:c.478-12712G>T	ENSP00000495806.2:n.478-12712G>T
ENST00000155840.12:c.573G>T MANE Select	ENSP00000155840.2:p.Leu191=
ENST00000335475.6:c.192G>T	ENSP00000334497.5:p.Leu64=
ENST00000646564.1:c.124-12712G>T	ENSP00000495806.1:n.124-12712G>T
ENST00000155840.9:c.573G>T	ENSP00000155840.2:p.Leu191=
ENST00000335475.5:c.192G>T	ENSP00000334497.5:p.Leu64=
ENST00000496887.6:c.312G>T	ENSP00000434560.1:p.Leu104=
NM_000218.2:c.573G>T , LRG_287t1:c.573G>T	NP_000209.2:p.Leu191=
NM_181798.1:c.192G>T , LRG_287t2:c.192G>T	NP_861463.1:p.Leu64=
NM_000218.3:c.573G>T MANE Select	NP_000209.2:p.Leu191=