Canonical Allele Identifier: CA1948160537

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846012644

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445009G>T , CM000673.2:g.2445009G>T	GRCh38
NC_000011.9:g.2466239G>T , CM000673.1:g.2466239G>T	GRCh37
NC_000011.8:g.2422815G>T	NCBI36
NG_008935.1:g.5019G>T , LRG_287:g.5019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+301G>T	ENSP00000434560.2:n.23+301G>T
ENST00000646564.2:c.-90G>T	ENSP00000495806.2:n.-90G>T
ENST00000155840.12:c.-90G>T MANE Select	ENSP00000155840.2:n.-90G>T
ENST00000155840.9:c.-90G>T	ENSP00000155840.2:n.-90G>T
ENST00000496887.6:c.23+301G>T	ENSP00000434560.1:n.23+301G>T
NM_000218.2:c.-90G>T , LRG_287t1:c.-90G>T	NP_000209.2:n.-90G>T
NM_000218.3:c.-90G>T MANE Select	NP_000209.2:n.-90G>T