Canonical Allele Identifier: CA2612002401

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2583323-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583323A>T , CM000673.2:g.2583323A>T	GRCh38
NC_000011.9:g.2604553A>T , CM000673.1:g.2604553A>T	GRCh37
NC_000011.8:g.2561129A>T	NCBI36
NG_008935.1:g.143333A>T , LRG_287:g.143333A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.661-112A>T	ENSP00000434560.2:n.661-112A>T
ENST00000646564.2:c.478-112A>T	ENSP00000495806.2:n.478-112A>T
ENST00000155840.12:c.922-112A>T MANE Select	ENSP00000155840.2:n.922-112A>T
ENST00000335475.6:c.541-112A>T	ENSP00000334497.5:n.541-112A>T
ENST00000646564.1:c.124-112A>T	ENSP00000495806.1:n.124-112A>T
ENST00000155840.9:c.922-112A>T	ENSP00000155840.2:n.922-112A>T
ENST00000335475.5:c.541-112A>T	ENSP00000334497.5:n.541-112A>T
NM_000218.2:c.922-112A>T , LRG_287t1:c.922-112A>T	NP_000209.2:n.922-112A>T
NM_181798.1:c.541-112A>T , LRG_287t2:c.541-112A>T	NP_861463.1:n.541-112A>T
NM_000218.3:c.922-112A>T MANE Select	NP_000209.2:n.922-112A>T