Canonical Allele Identifier: CA472038161

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1331830
• ClinVar RCV Id: RCV001842169
• dbSNP Id: rs2133732725
• gnomAD v4: 11-2572902-T-C
• MyVariant Identifiers: chr11:g.2594132T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572902T>C , CM000673.2:g.2572902T>C	GRCh38
NC_000011.9:g.2594132T>C , CM000673.1:g.2594132T>C	GRCh37
NC_000011.8:g.2550708T>C	NCBI36
NG_008935.1:g.132912T>C , LRG_287:g.132912T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.576T>C	ENSP00000434560.2:p.Phe192=
ENST00000646564.2:c.478-10533T>C	ENSP00000495806.2:n.478-10533T>C
ENST00000155840.12:c.837T>C MANE Select	ENSP00000155840.2:p.Phe279=
ENST00000335475.6:c.456T>C	ENSP00000334497.5:p.Phe152=
ENST00000646564.1:c.124-10533T>C	ENSP00000495806.1:n.124-10533T>C
ENST00000155840.9:c.837T>C	ENSP00000155840.2:p.Phe279=
ENST00000335475.5:c.456T>C	ENSP00000334497.5:p.Phe152=
ENST00000496887.6:c.576T>C	ENSP00000434560.1:p.Phe192=
NM_000218.2:c.837T>C , LRG_287t1:c.837T>C	NP_000209.2:p.Phe279=
NM_181798.1:c.456T>C , LRG_287t2:c.456T>C	NP_861463.1:p.Phe152=
NM_000218.3:c.837T>C MANE Select	NP_000209.2:p.Phe279=