Canonical Allele Identifier: CA2612002450

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2583354-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583356_2583357del , CM000673.2:g.2583356_2583357del	GRCh38
NC_000011.9:g.2604586_2604587del , CM000673.1:g.2604586_2604587del	GRCh37
NC_000011.8:g.2561162_2561163del	NCBI36
NG_008935.1:g.143366_143367del , LRG_287:g.143366_143367del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.661-79_661-78del	ENSP00000434560.2:n.661-79_661-78del
ENST00000646564.2:c.478-79_478-78del	ENSP00000495806.2:n.478-79_478-78del
ENST00000155840.12:c.922-79_922-78del MANE Select	ENSP00000155840.2:n.922-79_922-78del
ENST00000335475.6:c.541-79_541-78del	ENSP00000334497.5:n.541-79_541-78del
ENST00000646564.1:c.124-79_124-78del	ENSP00000495806.1:n.124-79_124-78del
ENST00000155840.9:c.922-79_922-78del	ENSP00000155840.2:n.922-79_922-78del
ENST00000335475.5:c.541-79_541-78del	ENSP00000334497.5:n.541-79_541-78del
NM_000218.2:c.922-79_922-78del , LRG_287t1:c.922-79_922-78del	NP_000209.2:n.922-79_922-78del
NM_181798.1:c.541-79_541-78del , LRG_287t2:c.541-79_541-78del	NP_861463.1:n.541-79_541-78del
NM_000218.3:c.922-79_922-78del MANE Select	NP_000209.2:n.922-79_922-78del