Canonical Allele Identifier: CA216311652

Gene: KCNQ1

Linked Data

• dbSNP Id: rs371956290
• gnomAD v4: 11-2572075-G-A
• MyVariant Identifiers: chr11:g.2593305G>A (hg19) ; chr11:g.2572075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572075G>A , CM000673.2:g.2572075G>A	GRCh38
NC_000011.9:g.2593305G>A , CM000673.1:g.2593305G>A	GRCh37
NC_000011.8:g.2549881G>A	NCBI36
NG_008935.1:g.132085G>A , LRG_287:g.132085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.485G>A	ENSP00000434560.2:p.Arg162Lys
ENST00000646564.2:c.478-11360G>A	ENSP00000495806.2:n.478-11360G>A
ENST00000155840.12:c.746G>A MANE Select	ENSP00000155840.2:p.Arg249Lys
ENST00000335475.6:c.365G>A	ENSP00000334497.5:p.Arg122Lys
ENST00000646564.1:c.124-11360G>A	ENSP00000495806.1:n.124-11360G>A
ENST00000155840.9:c.746G>A	ENSP00000155840.2:p.Arg249Lys
ENST00000335475.5:c.365G>A	ENSP00000334497.5:p.Arg122Lys
ENST00000496887.6:c.485G>A	ENSP00000434560.1:p.Arg162Lys
NM_000218.2:c.746G>A , LRG_287t1:c.746G>A	NP_000209.2:p.Arg249Lys
NM_181798.1:c.365G>A , LRG_287t2:c.365G>A	NP_861463.1:p.Arg122Lys
NM_000218.3:c.746G>A MANE Select	NP_000209.2:p.Arg249Lys