Canonical Allele Identifier: CA008910

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67130
• ClinVar RCV Id: RCV000057827 ; RCV000182143 ; RCV000223841 ; RCV000466144 ; RCV002381371 ; RCV002468561
• dbSNP Id: rs199472753
• gnomAD v4: 11-2583471-C-T
• MyVariant Identifiers: chr11:g.2604701C>T (hg19) ; chr11:g.2583471C>T (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583471C>T , CM000673.2:g.2583471C>T	GRCh38
NC_000011.9:g.2604701C>T , CM000673.1:g.2604701C>T	GRCh37
NC_000011.8:g.2561277C>T	NCBI36
NG_008935.1:g.143481C>T , LRG_287:g.143481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.697C>T	ENSP00000434560.2:p.Pro233Ser
ENST00000646564.2:c.514C>T	ENSP00000495806.2:p.Pro172Ser
ENST00000155840.12:c.958C>T MANE Select	ENSP00000155840.2:p.Pro320Ser
ENST00000335475.6:c.577C>T	ENSP00000334497.5:p.Pro193Ser
ENST00000646564.1:c.160C>T	ENSP00000495806.1:p.Pro54Ser
ENST00000155840.9:c.958C>T	ENSP00000155840.2:p.Pro320Ser
ENST00000335475.5:c.577C>T	ENSP00000334497.5:p.Pro193Ser
NM_000218.2:c.958C>T , LRG_287t1:c.958C>T	NP_000209.2:p.Pro320Ser
NM_181798.1:c.577C>T , LRG_287t2:c.577C>T	NP_861463.1:p.Pro193Ser
NM_000218.3:c.958C>T MANE Select	NP_000209.2:p.Pro320Ser