Canonical Allele Identifier: CA1948171361
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1846306964

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2463416A>C , CM000673.2:g.2463416A>C GRCh38
NC_000011.9:g.2484646A>C , CM000673.1:g.2484646A>C GRCh37
NC_000011.8:g.2441222A>C NCBI36
NG_008935.1:g.23426A>C , LRG_287:g.23426A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380776.5:n.91+1439A>C
ENST00000496887.7:c.125+17932A>C ENSP00000434560.2:n.125+17932A>C
ENST00000646564.2:c.386+17932A>C ENSP00000495806.2:n.386+17932A>C
ENST00000155840.12:c.386+17932A>C MANE Select ENSP00000155840.2:n.386+17932A>C
ENST00000335475.6:c.5+1702A>C ENSP00000334497.5:n.5+1702A>C
ENST00000646564.1:c.32+17932A>C ENSP00000495806.1:n.32+17932A>C
ENST00000155840.9:c.386+17932A>C ENSP00000155840.2:n.386+17932A>C
ENST00000335475.5:c.5+1702A>C ENSP00000334497.5:n.5+1702A>C
ENST00000345015.4:n.163+17932A>C
ENST00000380776.4:c.84+1439A>C ENSP00000370153.4:n.84+1439A>C
ENST00000496887.6:c.125+17932A>C ENSP00000434560.1:n.125+17932A>C
NM_000218.2:c.386+17932A>C , LRG_287t1:c.386+17932A>C NP_000209.2:n.386+17932A>C
NM_181798.1:c.5+1702A>C , LRG_287t2:c.5+1702A>C NP_861463.1:n.5+1702A>C
NM_000218.3:c.386+17932A>C MANE Select NP_000209.2:n.386+17932A>C