Canonical Allele Identifier: CA379133021

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3073692
• ClinVar RCV Id: RCV004016698
• gnomAD v4: 11-2583483-G-C
• MyVariant Identifiers: chr11:g.2604713G>C (hg19) ; chr11:g.2583483G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.709G>C	ENSP00000434560.2:p.Val237Leu
ENST00000646564.2:c.526G>C	ENSP00000495806.2:p.Val176Leu
ENST00000155840.12:c.970G>C MANE Select	ENSP00000155840.2:p.Val324Leu
ENST00000335475.6:c.589G>C	ENSP00000334497.5:p.Val197Leu
ENST00000646564.1:c.172G>C	ENSP00000495806.1:p.Val58Leu
ENST00000155840.9:c.970G>C	ENSP00000155840.2:p.Val324Leu
ENST00000335475.5:c.589G>C	ENSP00000334497.5:p.Val197Leu
NM_000218.2:c.970G>C , LRG_287t1:c.970G>C	NP_000209.2:p.Val324Leu
NM_181798.1:c.589G>C , LRG_287t2:c.589G>C	NP_861463.1:p.Val197Leu
NM_000218.3:c.970G>C MANE Select	NP_000209.2:p.Val324Leu