Canonical Allele Identifier: CA006304

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67053
• ClinVar RCV Id: RCV000057629 ; RCV000182220 ; RCV000557272 ; RCV001841675 ; RCV002054904 ; RCV003298107
• dbSNP Id: rs199473482
• ExAC: 11:2799221 G / A
• gnomAD v2: 11-2799221-G-A
• gnomAD v3: 11-2777991-G-A
• gnomAD v4: 11-2777991-G-A
• MyVariant Identifiers: chr11:g.2799221G>A (hg19) ; chr11:g.2777991G>A (hg38)
• PubMed: PMID:15851171 ; PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777991G>A , CM000673.2:g.2777991G>A	GRCh38
NC_000011.9:g.2799221G>A , CM000673.1:g.2799221G>A	GRCh37
NC_000011.8:g.2755797G>A	NCBI36
NG_008935.1:g.338001G>A , LRG_287:g.338001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1391G>A	ENSP00000434560.2:p.Arg464His
ENST00000646564.2:c.1208G>A	ENSP00000495806.2:p.Arg403His
ENST00000155840.12:c.1748G>A MANE Select	ENSP00000155840.2:p.Arg583His
ENST00000335475.6:c.1367G>A	ENSP00000334497.5:p.Arg456His
ENST00000526095.2:c.152G>A	ENSP00000494939.1:p.Arg51His
ENST00000646564.1:c.854G>A	ENSP00000495806.1:p.Arg285His
ENST00000155840.9:c.1748G>A	ENSP00000155840.2:p.Arg583His
ENST00000335475.5:c.1367G>A	ENSP00000334497.5:p.Arg456His
ENST00000526095.1:n.255G>A
NM_000218.2:c.1748G>A , LRG_287t1:c.1748G>A	NP_000209.2:p.Arg583His
NM_181798.1:c.1367G>A , LRG_287t2:c.1367G>A	NP_861463.1:p.Arg456His
NM_000218.3:c.1748G>A MANE Select	NP_000209.2:p.Arg583His