Canonical Allele Identifier: CA379130913

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 519257
• ClinVar RCV Id: RCV000620682
• dbSNP Id: rs199472709
• gnomAD v4: 11-2572021-G-T
• MyVariant Identifiers: chr11:g.2593251G>T (hg19) ; chr11:g.2572021G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572021G>T , CM000673.2:g.2572021G>T	GRCh38
NC_000011.9:g.2593251G>T , CM000673.1:g.2593251G>T	GRCh37
NC_000011.8:g.2549827G>T	NCBI36
NG_008935.1:g.132031G>T , LRG_287:g.132031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.431G>T	ENSP00000434560.2:p.Arg144Leu
ENST00000646564.2:c.478-11414G>T	ENSP00000495806.2:n.478-11414G>T
ENST00000155840.12:c.692G>T MANE Select	ENSP00000155840.2:p.Arg231Leu
ENST00000335475.6:c.311G>T	ENSP00000334497.5:p.Arg104Leu
ENST00000646564.1:c.124-11414G>T	ENSP00000495806.1:n.124-11414G>T
ENST00000155840.9:c.692G>T	ENSP00000155840.2:p.Arg231Leu
ENST00000335475.5:c.311G>T	ENSP00000334497.5:p.Arg104Leu
ENST00000496887.6:c.431G>T	ENSP00000434560.1:p.Arg144Leu
NM_000218.2:c.692G>T , LRG_287t1:c.692G>T	NP_000209.2:p.Arg231Leu
NM_181798.1:c.311G>T , LRG_287t2:c.311G>T	NP_861463.1:p.Arg104Leu
NM_000218.3:c.692G>T MANE Select	NP_000209.2:p.Arg231Leu