Canonical Allele Identifier: CA379121937

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1331890
• ClinVar RCV Id: RCV001842172
• dbSNP Id: rs1362690035
• gnomAD v3: 11-2527986-G-A
• gnomAD v4: 11-2527986-G-A
• MyVariant Identifiers: chr11:g.2549216G>A (hg19) ; chr11:g.2527986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527986G>A , CM000673.2:g.2527986G>A	GRCh38
NC_000011.9:g.2549216G>A , CM000673.1:g.2549216G>A	GRCh37
NC_000011.8:g.2505792G>A	NCBI36
NG_008935.1:g.87996G>A , LRG_287:g.87996G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.184G>A	ENSP00000434560.2:p.Ala62Thr
ENST00000646564.2:c.445G>A	ENSP00000495806.2:p.Ala149Thr
ENST00000155840.12:c.445G>A MANE Select	ENSP00000155840.2:p.Ala149Thr
ENST00000335475.6:c.64G>A	ENSP00000334497.5:p.Ala22Thr
ENST00000646564.1:c.91G>A	ENSP00000495806.1:p.Ala31Thr
ENST00000155840.9:c.445G>A	ENSP00000155840.2:p.Ala149Thr
ENST00000335475.5:c.64G>A	ENSP00000334497.5:p.Ala22Thr
ENST00000496887.6:c.184G>A	ENSP00000434560.1:p.Ala62Thr
NM_000218.2:c.445G>A , LRG_287t1:c.445G>A	NP_000209.2:p.Ala149Thr
NM_181798.1:c.64G>A , LRG_287t2:c.64G>A	NP_861463.1:p.Ala22Thr
NM_000218.3:c.445G>A MANE Select	NP_000209.2:p.Ala149Thr