Canonical Allele Identifier: CA675145835
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1283168156

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768829_2768833dup , CM000673.2:g.2768829_2768833dup GRCh38
NC_000011.9:g.2790059_2790063dup , CM000673.1:g.2790059_2790063dup GRCh37
NC_000011.8:g.2746635_2746639dup NCBI36
NG_008935.1:g.328839_328843dup , LRG_287:g.328839_328843dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1158-15_1158-11dup ENSP00000434560.2:n.1158-15_1158-11dup
ENST00000646564.2:c.975-15_975-11dup ENSP00000495806.2:n.975-15_975-11dup
ENST00000155840.12:c.1515-15_1515-11dup MANE Select ENSP00000155840.2:n.1515-15_1515-11dup
ENST00000335475.6:c.1134-15_1134-11dup ENSP00000334497.5:n.1134-15_1134-11dup
ENST00000646564.1:c.621-15_621-11dup ENSP00000495806.1:n.621-15_621-11dup
ENST00000155840.9:c.1515-15_1515-11dup ENSP00000155840.2:n.1515-15_1515-11dup
ENST00000335475.5:c.1134-15_1134-11dup ENSP00000334497.5:n.1134-15_1134-11dup
NM_000218.2:c.1515-15_1515-11dup , LRG_287t1:c.1515-15_1515-11dup NP_000209.2:n.1515-15_1515-11dup
NM_181798.1:c.1134-15_1134-11dup , LRG_287t2:c.1134-15_1134-11dup NP_861463.1:n.1134-15_1134-11dup
NM_000218.3:c.1515-15_1515-11dup MANE Select NP_000209.2:n.1515-15_1515-11dup