Canonical Allele Identifier: CA379133022

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 924962
• ClinVar RCV Id: RCV003284024 ; RCV003647831 ; RCV001843298
• dbSNP Id: rs1848536066
• gnomAD v4: 11-2583483-G-T
• MyVariant Identifiers: chr11:g.2604713G>T (hg19) ; chr11:g.2583483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583483G>T , CM000673.2:g.2583483G>T	GRCh38
NC_000011.9:g.2604713G>T , CM000673.1:g.2604713G>T	GRCh37
NC_000011.8:g.2561289G>T	NCBI36
NG_008935.1:g.143493G>T , LRG_287:g.143493G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.709G>T	ENSP00000434560.2:p.Val237Phe
ENST00000646564.2:c.526G>T	ENSP00000495806.2:p.Val176Phe
ENST00000155840.12:c.970G>T MANE Select	ENSP00000155840.2:p.Val324Phe
ENST00000335475.6:c.589G>T	ENSP00000334497.5:p.Val197Phe
ENST00000646564.1:c.172G>T	ENSP00000495806.1:p.Val58Phe
ENST00000155840.9:c.970G>T	ENSP00000155840.2:p.Val324Phe
ENST00000335475.5:c.589G>T	ENSP00000334497.5:p.Val197Phe
NM_000218.2:c.970G>T , LRG_287t1:c.970G>T	NP_000209.2:p.Val324Phe
NM_181798.1:c.589G>T , LRG_287t2:c.589G>T	NP_861463.1:p.Val197Phe
NM_000218.3:c.970G>T MANE Select	NP_000209.2:p.Val324Phe