Canonical Allele Identifier: CA008923

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200828
• ClinVar RCV Id: RCV000182144 ; RCV001852303
• dbSNP Id: rs794728517
• MyVariant Identifiers: chr11:g.2604704C>T (hg19) ; chr11:g.2583474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583474C>T , CM000673.2:g.2583474C>T	GRCh38
NC_000011.9:g.2604704C>T , CM000673.1:g.2604704C>T	GRCh37
NC_000011.8:g.2561280C>T	NCBI36
NG_008935.1:g.143484C>T , LRG_287:g.143484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.700C>T	ENSP00000434560.2:p.Gln234Ter
ENST00000646564.2:c.517C>T	ENSP00000495806.2:p.Gln173Ter
ENST00000155840.12:c.961C>T MANE Select	ENSP00000155840.2:p.Gln321Ter
ENST00000335475.6:c.580C>T	ENSP00000334497.5:p.Gln194Ter
ENST00000646564.1:c.163C>T	ENSP00000495806.1:p.Gln55Ter
ENST00000155840.9:c.961C>T	ENSP00000155840.2:p.Gln321Ter
ENST00000335475.5:c.580C>T	ENSP00000334497.5:p.Gln194Ter
NM_000218.2:c.961C>T , LRG_287t1:c.961C>T	NP_000209.2:p.Gln321Ter
NM_181798.1:c.580C>T , LRG_287t2:c.580C>T	NP_861463.1:p.Gln194Ter
NM_000218.3:c.961C>T MANE Select	NP_000209.2:p.Gln321Ter