Canonical Allele Identifier: CA007295

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53056
• ClinVar RCV Id: RCV000046070 ; RCV002490607 ; RCV004018949
• dbSNP Id: rs139042529
• ExAC: 11:2591893 C / G
• gnomAD v2: 11-2591893-C-G
• gnomAD v3: 11-2570663-C-G
• gnomAD v4: 11-2570663-C-G
• MyVariant Identifiers: chr11:g.2591893C>G (hg19) ; chr11:g.2570663C>G (hg38)
• PubMed: PMID:12051962

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570663C>G , CM000673.2:g.2570663C>G	GRCh38
NC_000011.9:g.2591893C>G , CM000673.1:g.2591893C>G	GRCh37
NC_000011.8:g.2548469C>G	NCBI36
NG_008935.1:g.130673C>G , LRG_287:g.130673C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.252C>G	ENSP00000434560.2:p.Tyr84Ter
ENST00000646564.2:c.478-12772C>G	ENSP00000495806.2:n.478-12772C>G
ENST00000155840.12:c.513C>G MANE Select	ENSP00000155840.2:p.Tyr171Ter
ENST00000335475.6:c.132C>G	ENSP00000334497.5:p.Tyr44Ter
ENST00000646564.1:c.124-12772C>G	ENSP00000495806.1:n.124-12772C>G
ENST00000155840.9:c.513C>G	ENSP00000155840.2:p.Tyr171Ter
ENST00000335475.5:c.132C>G	ENSP00000334497.5:p.Tyr44Ter
ENST00000496887.6:c.252C>G	ENSP00000434560.1:p.Tyr84Ter
NM_000218.2:c.513C>G , LRG_287t1:c.513C>G	NP_000209.2:p.Tyr171Ter
NM_181798.1:c.132C>G , LRG_287t2:c.132C>G	NP_861463.1:p.Tyr44Ter
NM_000218.3:c.513C>G MANE Select	NP_000209.2:p.Tyr171Ter