Canonical Allele Identifier: CA1948171487
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1846308789

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2463534G>A , CM000673.2:g.2463534G>A GRCh38
NC_000011.9:g.2484764G>A , CM000673.1:g.2484764G>A GRCh37
NC_000011.8:g.2441340G>A NCBI36
NG_008935.1:g.23544G>A , LRG_287:g.23544G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380776.5:n.91+1557G>A
ENST00000496887.7:c.125+18050G>A ENSP00000434560.2:n.125+18050G>A
ENST00000646564.2:c.386+18050G>A ENSP00000495806.2:n.386+18050G>A
ENST00000155840.12:c.386+18050G>A MANE Select ENSP00000155840.2:n.386+18050G>A
ENST00000335475.6:c.5+1820G>A ENSP00000334497.5:n.5+1820G>A
ENST00000646564.1:c.32+18050G>A ENSP00000495806.1:n.32+18050G>A
ENST00000155840.9:c.386+18050G>A ENSP00000155840.2:n.386+18050G>A
ENST00000335475.5:c.5+1820G>A ENSP00000334497.5:n.5+1820G>A
ENST00000345015.4:n.163+18050G>A
ENST00000380776.4:c.84+1557G>A ENSP00000370153.4:n.84+1557G>A
ENST00000496887.6:c.125+18050G>A ENSP00000434560.1:n.125+18050G>A
NM_000218.2:c.386+18050G>A , LRG_287t1:c.386+18050G>A NP_000209.2:n.386+18050G>A
NM_181798.1:c.5+1820G>A , LRG_287t2:c.5+1820G>A NP_861463.1:n.5+1820G>A
NM_000218.3:c.386+18050G>A MANE Select NP_000209.2:n.386+18050G>A