Canonical Allele Identifier: CA007174

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53047
• ClinVar RCV Id: RCV001841645 ; RCV002288548 ; RCV002336179
• dbSNP Id: rs397508111
• ExAC: 11:2549253 G / A
• gnomAD v2: 11-2549253-G-A
• gnomAD v3: 11-2528023-G-A
• gnomAD v4: 11-2528023-G-A
• MyVariant Identifiers: chr11:g.2549253G>A (hg19) ; chr11:g.2528023G>A (hg38)
• PubMed: PMID:15840476

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528023G>A , CM000673.2:g.2528023G>A	GRCh38
NC_000011.9:g.2549253G>A , CM000673.1:g.2549253G>A	GRCh37
NC_000011.8:g.2505829G>A	NCBI36
NG_008935.1:g.88033G>A , LRG_287:g.88033G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.216+5G>A	ENSP00000434560.2:n.216+5G>A
ENST00000646564.2:c.477+5G>A	ENSP00000495806.2:n.477+5G>A
ENST00000155840.12:c.477+5G>A MANE Select	ENSP00000155840.2:n.477+5G>A
ENST00000335475.6:c.96+5G>A	ENSP00000334497.5:n.96+5G>A
ENST00000646564.1:c.123+5G>A	ENSP00000495806.1:n.123+5G>A
ENST00000155840.9:c.477+5G>A	ENSP00000155840.2:n.477+5G>A
ENST00000335475.5:c.96+5G>A	ENSP00000334497.5:n.96+5G>A
ENST00000496887.6:c.216+5G>A	ENSP00000434560.1:n.216+5G>A
NM_000218.2:c.477+5G>A , LRG_287t1:c.477+5G>A	NP_000209.2:n.477+5G>A
NM_181798.1:c.96+5G>A , LRG_287t2:c.96+5G>A	NP_861463.1:n.96+5G>A
NM_000218.3:c.477+5G>A MANE Select	NP_000209.2:n.477+5G>A