Canonical Allele Identifier: CA006272
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67052
ClinVar RCV Id: RCV000057626 RCV001320481
dbSNP Id: rs199472809
MyVariant Identifiers: chr11:g.2798242C>T (hg19) chr11:g.2777012C>T (hg38)
PubMed: PMID:19716085 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2777012C>T , CM000673.2:g.2777012C>T GRCh38
NC_000011.9:g.2798242C>T , CM000673.1:g.2798242C>T GRCh37
NC_000011.8:g.2754818C>T NCBI36
NG_008935.1:g.337022C>T , LRG_287:g.337022C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1355C>T ENSP00000434560.2:p.Ser452Leu
ENST00000646564.2:c.1172C>T ENSP00000495806.2:p.Ser391Leu
ENST00000155840.12:c.1712C>T MANE Select ENSP00000155840.2:p.Ser571Leu
ENST00000335475.6:c.1331C>T ENSP00000334497.5:p.Ser444Leu
ENST00000646564.1:c.818C>T ENSP00000495806.1:p.Ser273Leu
ENST00000155840.9:c.1712C>T ENSP00000155840.2:p.Ser571Leu
ENST00000335475.5:c.1331C>T ENSP00000334497.5:p.Ser444Leu
NM_000218.2:c.1712C>T , LRG_287t1:c.1712C>T NP_000209.2:p.Ser571Leu
NM_181798.1:c.1331C>T , LRG_287t2:c.1331C>T NP_861463.1:p.Ser444Leu
NM_000218.3:c.1712C>T MANE Select NP_000209.2:p.Ser571Leu
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