Canonical Allele Identifier: CA007345

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200814
• ClinVar RCV Id: RCV000182080 ; RCV001852299 ; RCV003319329
• dbSNP Id: rs199472697
• gnomAD v4: 11-2570671-G-T
• MyVariant Identifiers: chr11:g.2591901G>T (hg19) ; chr11:g.2570671G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570671G>T , CM000673.2:g.2570671G>T	GRCh38
NC_000011.9:g.2591901G>T , CM000673.1:g.2591901G>T	GRCh37
NC_000011.8:g.2548477G>T	NCBI36
NG_008935.1:g.130681G>T , LRG_287:g.130681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.260G>T	ENSP00000434560.2:p.Arg87Leu
ENST00000646564.2:c.478-12764G>T	ENSP00000495806.2:n.478-12764G>T
ENST00000155840.12:c.521G>T MANE Select	ENSP00000155840.2:p.Arg174Leu
ENST00000335475.6:c.140G>T	ENSP00000334497.5:p.Arg47Leu
ENST00000646564.1:c.124-12764G>T	ENSP00000495806.1:n.124-12764G>T
ENST00000155840.9:c.521G>T	ENSP00000155840.2:p.Arg174Leu
ENST00000335475.5:c.140G>T	ENSP00000334497.5:p.Arg47Leu
ENST00000496887.6:c.260G>T	ENSP00000434560.1:p.Arg87Leu
NM_000218.2:c.521G>T , LRG_287t1:c.521G>T	NP_000209.2:p.Arg174Leu
NM_181798.1:c.140G>T , LRG_287t2:c.140G>T	NP_861463.1:p.Arg47Leu
NM_000218.3:c.521G>T MANE Select	NP_000209.2:p.Arg174Leu