Canonical Allele Identifier: CA027860

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 926680
• ClinVar RCV Id: RCV001841083 ; RCV004010358
• dbSNP Id: rs777546418
• ExAC: 11:2608917 G / A
• gnomAD v2: 11-2608917-G-A
• gnomAD v3: 11-2587687-G-A
• gnomAD v4: 11-2587687-G-A
• MyVariant Identifiers: chr11:g.2608917G>A (hg19) ; chr11:g.2587687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587687G>A , CM000673.2:g.2587687G>A	GRCh38
NC_000011.9:g.2608917G>A , CM000673.1:g.2608917G>A	GRCh37
NC_000011.8:g.2565493G>A	NCBI36
NG_008935.1:g.147697G>A , LRG_287:g.147697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.889G>A	ENSP00000434560.2:p.Val297Met
ENST00000646564.2:c.706G>A	ENSP00000495806.2:p.Val236Met
ENST00000155840.12:c.1246G>A MANE Select	ENSP00000155840.2:p.Val416Met
ENST00000335475.6:c.865G>A	ENSP00000334497.5:p.Val289Met
ENST00000646564.1:c.352G>A	ENSP00000495806.1:p.Val118Met
ENST00000155840.9:c.1246G>A	ENSP00000155840.2:p.Val416Met
ENST00000335475.5:c.865G>A	ENSP00000334497.5:p.Val289Met
NM_000218.2:c.1246G>A , LRG_287t1:c.1246G>A	NP_000209.2:p.Val416Met
NM_181798.1:c.865G>A , LRG_287t2:c.865G>A	NP_861463.1:p.Val289Met
NM_000218.3:c.1246G>A MANE Select	NP_000209.2:p.Val416Met