Canonical Allele Identifier: CA007379

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53063
• ClinVar RCV Id: RCV000057694 ; RCV000148544 ; RCV000234794 ; RCV000505781 ; RCV000620835 ; RCV004542712 ; RCV001841648
• dbSNP Id: rs199473394
• gnomAD v2: 11-2591915-G-A
• gnomAD v3: 11-2570685-G-A
• gnomAD v4: 11-2570685-G-A
• MyVariant Identifiers: chr11:g.2591915G>A (hg19) ; chr11:g.2570685G>A (hg38)
• PubMed: PMID:10973849 ; PMID:15051636 ; PMID:19716085 ; PMID:22581653 ; PMID:23392653 ; PMID:25637381 ; PMID:25845942 ; PMID:25935074 ; PMID:27041150 ; PMID:27485560 ; PMID:27831900 ; PMID:28135719 ; PMID:28438721 ; PMID:28944242 ; PMID:29021305

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570685G>A , CM000673.2:g.2570685G>A	GRCh38
NC_000011.9:g.2591915G>A , CM000673.1:g.2591915G>A	GRCh37
NC_000011.8:g.2548491G>A	NCBI36
NG_008935.1:g.130695G>A , LRG_287:g.130695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.274G>A	ENSP00000434560.2:p.Gly92Ser
ENST00000646564.2:c.478-12750G>A	ENSP00000495806.2:n.478-12750G>A
ENST00000155840.12:c.535G>A MANE Select	ENSP00000155840.2:p.Gly179Ser
ENST00000335475.6:c.154G>A	ENSP00000334497.5:p.Gly52Ser
ENST00000646564.1:c.124-12750G>A	ENSP00000495806.1:n.124-12750G>A
ENST00000155840.9:c.535G>A	ENSP00000155840.2:p.Gly179Ser
ENST00000335475.5:c.154G>A	ENSP00000334497.5:p.Gly52Ser
ENST00000496887.6:c.274G>A	ENSP00000434560.1:p.Gly92Ser
NM_000218.2:c.535G>A , LRG_287t1:c.535G>A	NP_000209.2:p.Gly179Ser
NM_181798.1:c.154G>A , LRG_287t2:c.154G>A	NP_861463.1:p.Gly52Ser
NM_000218.3:c.535G>A MANE Select	NP_000209.2:p.Gly179Ser