Canonical Allele Identifier: CA005715

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200843
• ClinVar RCV Id: RCV000182178 ; RCV002381588 ; RCV001068648
• dbSNP Id: rs794728527
• gnomAD v2: 11-2610074-T-A
• gnomAD v4: 11-2588844-T-A
• MyVariant Identifiers: chr11:g.2610074T>A (hg19) ; chr11:g.2588844T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588844T>A , CM000673.2:g.2588844T>A	GRCh38
NC_000011.9:g.2610074T>A , CM000673.1:g.2610074T>A	GRCh37
NC_000011.8:g.2566650T>A	NCBI36
NG_008935.1:g.148854T>A , LRG_287:g.148854T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1026T>A	ENSP00000434560.2:p.Tyr342Ter
ENST00000646564.2:c.843T>A	ENSP00000495806.2:p.Tyr281Ter
ENST00000155840.12:c.1383T>A MANE Select	ENSP00000155840.2:p.Tyr461Ter
ENST00000335475.6:c.1002T>A	ENSP00000334497.5:p.Tyr334Ter
ENST00000646564.1:c.489T>A	ENSP00000495806.1:p.Tyr163Ter
ENST00000155840.9:c.1383T>A	ENSP00000155840.2:p.Tyr461Ter
ENST00000335475.5:c.1002T>A	ENSP00000334497.5:p.Tyr334Ter
NM_000218.2:c.1383T>A , LRG_287t1:c.1383T>A	NP_000209.2:p.Tyr461Ter
NM_181798.1:c.1002T>A , LRG_287t2:c.1002T>A	NP_861463.1:p.Tyr334Ter
NM_000218.3:c.1383T>A MANE Select	NP_000209.2:p.Tyr461Ter