Canonical Allele Identifier: CA005987

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52997
• ClinVar RCV Id: RCV000182320 ; RCV001857383
• dbSNP Id: rs138551008
• gnomAD v4: 11-2775977-C-A
• MyVariant Identifiers: chr11:g.2797207C>A (hg19) ; chr11:g.2775977C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775977C>A , CM000673.2:g.2775977C>A	GRCh38
NC_000011.9:g.2797207C>A , CM000673.1:g.2797207C>A	GRCh37
NC_000011.8:g.2753783C>A	NCBI36
NG_008935.1:g.335987C>A , LRG_287:g.335987C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1251C>A	ENSP00000434560.2:p.Tyr417Ter
ENST00000646564.2:c.1068C>A	ENSP00000495806.2:p.Tyr356Ter
ENST00000155840.12:c.1608C>A MANE Select	ENSP00000155840.2:p.Tyr536Ter
ENST00000335475.6:c.1227C>A	ENSP00000334497.5:p.Tyr409Ter
ENST00000646564.1:c.714C>A	ENSP00000495806.1:p.Tyr238Ter
ENST00000155840.9:c.1608C>A	ENSP00000155840.2:p.Tyr536Ter
ENST00000335475.5:c.1227C>A	ENSP00000334497.5:p.Tyr409Ter
NM_000218.2:c.1608C>A , LRG_287t1:c.1608C>A	NP_000209.2:p.Tyr536Ter
NM_181798.1:c.1227C>A , LRG_287t2:c.1227C>A	NP_861463.1:p.Tyr409Ter
NM_000218.3:c.1608C>A MANE Select	NP_000209.2:p.Tyr536Ter