Canonical Allele Identifier: CA005382
Gene: KCNQ1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67015
ClinVar RCV Id: RCV000057561
dbSNP Id: rs199472769

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2587577G>C , CM000673.2:g.2587577G>C GRCh38
NC_000011.9:g.2608807G>C , CM000673.1:g.2608807G>C GRCh37
NC_000011.8:g.2565383G>C NCBI36
NG_008935.1:g.147587G>C , LRG_287:g.147587G>C

Transcript Alleles

HGVS Amino-acid change
NM_000218.2:c.1136G>C , LRG_287t1:c.1136G>C NP_000209.2:p.Trp379Ser
NM_181798.1:c.755G>C , LRG_287t2:c.755G>C NP_861463.1:p.Trp252Ser
ENST00000155840.9:c.1136G>C ENSP00000155840.2:p.Trp379Ser
ENST00000335475.5:c.755G>C ENSP00000334497.5:p.Trp252Ser