Canonical Allele Identifier: CA007421
Gene: KCNQ1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53064
ClinVar RCV Id: RCV000057698
dbSNP Id: rs199473397

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570701A>C , CM000673.2:g.2570701A>C GRCh38
NC_000011.9:g.2591931A>C , CM000673.1:g.2591931A>C GRCh37
NC_000011.8:g.2548507A>C NCBI36
NG_008935.1:g.130711A>C , LRG_287:g.130711A>C

Transcript Alleles

HGVS Amino-acid change
NM_000218.2:c.551A>C , LRG_287t1:c.551A>C NP_000209.2:p.Tyr184Ser
NM_181798.1:c.170A>C , LRG_287t2:c.170A>C NP_861463.1:p.Tyr57Ser
ENST00000155840.9:c.551A>C ENSP00000155840.2:p.Tyr184Ser
ENST00000335475.5:c.170A>C ENSP00000334497.5:p.Tyr57Ser
ENST00000496887.6:c.290A>C ENSP00000434560.1:p.Tyr97Ser