Canonical Allele Identifier: CA379129946

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2795978
• ClinVar RCV Id: RCV003647395
• gnomAD v4: 11-2570712-T-C
• MyVariant Identifiers: chr11:g.2591942T>C (hg19) ; chr11:g.2570712T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570712T>C , CM000673.2:g.2570712T>C	GRCh38
NC_000011.9:g.2591942T>C , CM000673.1:g.2591942T>C	GRCh37
NC_000011.8:g.2548518T>C	NCBI36
NG_008935.1:g.130722T>C , LRG_287:g.130722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.301T>C	ENSP00000434560.2:p.Trp101Arg
ENST00000646564.2:c.478-12723T>C	ENSP00000495806.2:n.478-12723T>C
ENST00000155840.12:c.562T>C MANE Select	ENSP00000155840.2:p.Trp188Arg
ENST00000335475.6:c.181T>C	ENSP00000334497.5:p.Trp61Arg
ENST00000646564.1:c.124-12723T>C	ENSP00000495806.1:n.124-12723T>C
ENST00000155840.9:c.562T>C	ENSP00000155840.2:p.Trp188Arg
ENST00000335475.5:c.181T>C	ENSP00000334497.5:p.Trp61Arg
ENST00000496887.6:c.301T>C	ENSP00000434560.1:p.Trp101Arg
NM_000218.2:c.562T>C , LRG_287t1:c.562T>C	NP_000209.2:p.Trp188Arg
NM_181798.1:c.181T>C , LRG_287t2:c.181T>C	NP_861463.1:p.Trp61Arg
NM_000218.3:c.562T>C MANE Select	NP_000209.2:p.Trp188Arg