Canonical Allele Identifier: CA1948224233

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848530476

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583236T>A , CM000673.2:g.2583236T>A	GRCh38
NC_000011.9:g.2604466T>A , CM000673.1:g.2604466T>A	GRCh37
NC_000011.8:g.2561042T>A	NCBI36
NG_008935.1:g.143246T>A , LRG_287:g.143246T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.661-199T>A	ENSP00000434560.2:n.661-199T>A
ENST00000646564.2:c.478-199T>A	ENSP00000495806.2:n.478-199T>A
ENST00000155840.12:c.922-199T>A MANE Select	ENSP00000155840.2:n.922-199T>A
ENST00000335475.6:c.541-199T>A	ENSP00000334497.5:n.541-199T>A
ENST00000646564.1:c.124-199T>A	ENSP00000495806.1:n.124-199T>A
ENST00000155840.9:c.922-199T>A	ENSP00000155840.2:n.922-199T>A
ENST00000335475.5:c.541-199T>A	ENSP00000334497.5:n.541-199T>A
NM_000218.2:c.922-199T>A , LRG_287t1:c.922-199T>A	NP_000209.2:n.922-199T>A
NM_181798.1:c.541-199T>A , LRG_287t2:c.541-199T>A	NP_861463.1:n.541-199T>A
NM_000218.3:c.922-199T>A MANE Select	NP_000209.2:n.922-199T>A