Canonical Allele Identifier: CA216322012

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 924810
• ClinVar RCV Id: RCV001467977 ; RCV001843287 ; RCV003293951
• dbSNP Id: rs1027750390
• gnomAD v2: 11-2799258-A-G
• gnomAD v3: 11-2778028-A-G
• gnomAD v4: 11-2778028-A-G
• MyVariant Identifiers: chr11:g.2799258A>G (hg19) ; chr11:g.2778028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778028A>G , CM000673.2:g.2778028A>G	GRCh38
NC_000011.9:g.2799258A>G , CM000673.1:g.2799258A>G	GRCh37
NC_000011.8:g.2755834A>G	NCBI36
NG_008935.1:g.338038A>G , LRG_287:g.338038A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1428A>G	ENSP00000434560.2:p.Val476=
ENST00000646564.2:c.1245A>G	ENSP00000495806.2:p.Val415=
ENST00000155840.12:c.1785A>G MANE Select	ENSP00000155840.2:p.Val595=
ENST00000335475.6:c.1404A>G	ENSP00000334497.5:p.Val468=
ENST00000526095.2:c.189A>G	ENSP00000494939.1:p.Val63=
ENST00000646564.1:c.891A>G	ENSP00000495806.1:p.Val297=
ENST00000155840.9:c.1785A>G	ENSP00000155840.2:p.Val595=
ENST00000335475.5:c.1404A>G	ENSP00000334497.5:p.Val468=
ENST00000526095.1:n.292A>G
NM_000218.2:c.1785A>G , LRG_287t1:c.1785A>G	NP_000209.2:p.Val595=
NM_181798.1:c.1404A>G , LRG_287t2:c.1404A>G	NP_861463.1:p.Val468=
NM_000218.3:c.1785A>G MANE Select	NP_000209.2:p.Val595=