Canonical Allele Identifier: CA2739276105

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2830421
• ClinVar RCV Id: RCV003648336

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583428C>T , CM000673.2:g.2583428C>T	GRCh38
NC_000011.9:g.2604658C>T , CM000673.1:g.2604658C>T	GRCh37
NC_000011.8:g.2561234C>T	NCBI36
NG_008935.1:g.143438C>T , LRG_287:g.143438C>T

Transcript Alleles

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