Canonical Allele Identifier: CA16613564

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 405268
• ClinVar RCV Id: RCV000464076 ; RCV000786153
• dbSNP Id: rs1060500629
• MyVariant Identifiers: chr11:g.2608846G>A (hg19) ; chr11:g.2587616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587616G>A , CM000673.2:g.2587616G>A	GRCh38
NC_000011.9:g.2608846G>A , CM000673.1:g.2608846G>A	GRCh37
NC_000011.8:g.2565422G>A	NCBI36
NG_008935.1:g.147626G>A , LRG_287:g.147626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.818G>A	ENSP00000434560.2:p.Trp273Ter
ENST00000646564.2:c.635G>A	ENSP00000495806.2:p.Trp212Ter
ENST00000155840.12:c.1175G>A MANE Select	ENSP00000155840.2:p.Trp392Ter
ENST00000335475.6:c.794G>A	ENSP00000334497.5:p.Trp265Ter
ENST00000646564.1:c.281G>A	ENSP00000495806.1:p.Trp94Ter
ENST00000155840.9:c.1175G>A	ENSP00000155840.2:p.Trp392Ter
ENST00000335475.5:c.794G>A	ENSP00000334497.5:p.Trp265Ter
NM_000218.2:c.1175G>A , LRG_287t1:c.1175G>A	NP_000209.2:p.Trp392Ter
NM_181798.1:c.794G>A , LRG_287t2:c.794G>A	NP_861463.1:p.Trp265Ter
NM_000218.3:c.1175G>A MANE Select	NP_000209.2:p.Trp392Ter