Canonical Allele Identifier: CA13500411
Gene: KCNQ1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2283228

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2828300A>C , CM000673.2:g.2828300A>C GRCh38
NC_000011.9:g.2849530A>C , CM000673.1:g.2849530A>C GRCh37
NC_000011.8:g.2806106A>C NCBI36
NG_008935.1:g.388310A>C , LRG_287:g.388310A>C

Transcript Alleles

HGVS Amino-acid change
NM_000218.2:c.1795-19467A>C , LRG_287t1:c.1795-19467A>C NP_000209.2:p.=
NM_181798.1:c.1414-19467A>C , LRG_287t2:c.1414-19467A>C NP_861463.1:p.=
ENST00000155840.9:c.1795-19467A>C ENSP00000155840.2:p.=
ENST00000335475.5:c.1414-19467A>C ENSP00000334497.5:p.=
ENST00000526095.1:n.302-19467A>C