Canonical Allele Identifier: CA005599

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200846
• ClinVar RCV Id: RCV000182184 ; RCV001852305 ; RCV002381589 ; RCV002485201 ; RCV001842871
• dbSNP Id: rs149089817
• ExAC: 11:2610027 G / A
• gnomAD v2: 11-2610027-G-A
• gnomAD v3: 11-2588797-G-A
• gnomAD v4: 11-2588797-G-A
• MyVariant Identifiers: chr11:g.2610027G>A (hg19) ; chr11:g.2588797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588797G>A , CM000673.2:g.2588797G>A	GRCh38
NC_000011.9:g.2610027G>A , CM000673.1:g.2610027G>A	GRCh37
NC_000011.8:g.2566603G>A	NCBI36
NG_008935.1:g.148807G>A , LRG_287:g.148807G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.979G>A	ENSP00000434560.2:p.Asp327Asn
ENST00000646564.2:c.796G>A	ENSP00000495806.2:p.Asp266Asn
ENST00000155840.12:c.1336G>A MANE Select	ENSP00000155840.2:p.Asp446Asn
ENST00000335475.6:c.955G>A	ENSP00000334497.5:p.Asp319Asn
ENST00000646564.1:c.442G>A	ENSP00000495806.1:p.Asp148Asn
ENST00000155840.9:c.1336G>A	ENSP00000155840.2:p.Asp446Asn
ENST00000335475.5:c.955G>A	ENSP00000334497.5:p.Asp319Asn
NM_000218.2:c.1336G>A , LRG_287t1:c.1336G>A	NP_000209.2:p.Asp446Asn
NM_181798.1:c.955G>A , LRG_287t2:c.955G>A	NP_861463.1:p.Asp319Asn
NM_000218.3:c.1336G>A MANE Select	NP_000209.2:p.Asp446Asn