Canonical Allele Identifier: CA2612008540

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2768796-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768796C>T , CM000673.2:g.2768796C>T	GRCh38
NC_000011.9:g.2790026C>T , CM000673.1:g.2790026C>T	GRCh37
NC_000011.8:g.2746602C>T	NCBI36
NG_008935.1:g.328806C>T , LRG_287:g.328806C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1158-48C>T	ENSP00000434560.2:n.1158-48C>T
ENST00000646564.2:c.975-48C>T	ENSP00000495806.2:n.975-48C>T
ENST00000155840.12:c.1515-48C>T MANE Select	ENSP00000155840.2:n.1515-48C>T
ENST00000335475.6:c.1134-48C>T	ENSP00000334497.5:n.1134-48C>T
ENST00000646564.1:c.621-48C>T	ENSP00000495806.1:n.621-48C>T
ENST00000155840.9:c.1515-48C>T	ENSP00000155840.2:n.1515-48C>T
ENST00000335475.5:c.1134-48C>T	ENSP00000334497.5:n.1134-48C>T
NM_000218.2:c.1515-48C>T , LRG_287t1:c.1515-48C>T	NP_000209.2:n.1515-48C>T
NM_181798.1:c.1134-48C>T , LRG_287t2:c.1134-48C>T	NP_861463.1:n.1134-48C>T
NM_000218.3:c.1515-48C>T MANE Select	NP_000209.2:n.1515-48C>T