Canonical Allele Identifier: CA16613520

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 405261
• ClinVar RCV Id: RCV000472268
• dbSNP Id: rs199472765
• MyVariant Identifiers: chr11:g.2606455C>A (hg19) ; chr11:g.2585225C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585225C>A , CM000673.2:g.2585225C>A	GRCh38
NC_000011.9:g.2606455C>A , CM000673.1:g.2606455C>A	GRCh37
NC_000011.8:g.2563031C>A	NCBI36
NG_008935.1:g.145235C>A , LRG_287:g.145235C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1680C>A	ENSP00000434560.2:n.771+1680C>A
ENST00000646564.2:c.588+1680C>A	ENSP00000495806.2:n.588+1680C>A
ENST00000155840.12:c.1046C>A MANE Select	ENSP00000155840.2:p.Ser349Ter
ENST00000335475.6:c.665C>A	ENSP00000334497.5:p.Ser222Ter
ENST00000646564.1:c.234+1680C>A	ENSP00000495806.1:n.234+1680C>A
ENST00000155840.9:c.1046C>A	ENSP00000155840.2:p.Ser349Ter
ENST00000335475.5:c.665C>A	ENSP00000334497.5:p.Ser222Ter
NM_000218.2:c.1046C>A , LRG_287t1:c.1046C>A	NP_000209.2:p.Ser349Ter
NM_181798.1:c.665C>A , LRG_287t2:c.665C>A	NP_861463.1:p.Ser222Ter
NM_000218.3:c.1046C>A MANE Select	NP_000209.2:p.Ser349Ter