Canonical Allele Identifier: CA006380

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200858
• ClinVar RCV Id: RCV000182227 ; RCV000770826 ; RCV000815960 ; RCV001449795 ; RCV002399650
• dbSNP Id: rs794728537
• gnomAD v4: 11-2778023-C-T
• MyVariant Identifiers: chr11:g.2799253C>T (hg19) ; chr11:g.2778023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778023C>T , CM000673.2:g.2778023C>T	GRCh38
NC_000011.9:g.2799253C>T , CM000673.1:g.2799253C>T	GRCh37
NC_000011.8:g.2755829C>T	NCBI36
NG_008935.1:g.338033C>T , LRG_287:g.338033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1423C>T	ENSP00000434560.2:p.Arg475Ter
ENST00000646564.2:c.1240C>T	ENSP00000495806.2:p.Arg414Ter
ENST00000155840.12:c.1780C>T MANE Select	ENSP00000155840.2:p.Arg594Ter
ENST00000335475.6:c.1399C>T	ENSP00000334497.5:p.Arg467Ter
ENST00000526095.2:c.184C>T	ENSP00000494939.1:p.Arg62Ter
ENST00000646564.1:c.886C>T	ENSP00000495806.1:p.Arg296Ter
ENST00000155840.9:c.1780C>T	ENSP00000155840.2:p.Arg594Ter
ENST00000335475.5:c.1399C>T	ENSP00000334497.5:p.Arg467Ter
ENST00000526095.1:n.287C>T
NM_000218.2:c.1780C>T , LRG_287t1:c.1780C>T	NP_000209.2:p.Arg594Ter
NM_181798.1:c.1399C>T , LRG_287t2:c.1399C>T	NP_861463.1:p.Arg467Ter
NM_000218.3:c.1780C>T MANE Select	NP_000209.2:p.Arg594Ter