Canonical Allele Identifier: CA472037754

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1917681
• ClinVar RCV Id: RCV002625645
• dbSNP Id: rs1357772245
• gnomAD v2: 11-2591872-G-A
• gnomAD v4: 11-2570642-G-A
• MyVariant Identifiers: chr11:g.2591872G>A (hg19) ; chr11:g.2570642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570642G>A , CM000673.2:g.2570642G>A	GRCh38
NC_000011.9:g.2591872G>A , CM000673.1:g.2591872G>A	GRCh37
NC_000011.8:g.2548448G>A	NCBI36
NG_008935.1:g.130652G>A , LRG_287:g.130652G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.231G>A	ENSP00000434560.2:p.Val77=
ENST00000646564.2:c.478-12793G>A	ENSP00000495806.2:n.478-12793G>A
ENST00000155840.12:c.492G>A MANE Select	ENSP00000155840.2:p.Val164=
ENST00000335475.6:c.111G>A	ENSP00000334497.5:p.Val37=
ENST00000646564.1:c.124-12793G>A	ENSP00000495806.1:n.124-12793G>A
ENST00000155840.9:c.492G>A	ENSP00000155840.2:p.Val164=
ENST00000335475.5:c.111G>A	ENSP00000334497.5:p.Val37=
ENST00000496887.6:c.231G>A	ENSP00000434560.1:p.Val77=
NM_000218.2:c.492G>A , LRG_287t1:c.492G>A	NP_000209.2:p.Val164=
NM_181798.1:c.111G>A , LRG_287t2:c.111G>A	NP_861463.1:p.Val37=
NM_000218.3:c.492G>A MANE Select	NP_000209.2:p.Val164=