Canonical Allele Identifier: CA2611999520

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2444993-G-GGCGGGGCTGGCAGCAGTGGCTGCCCGCACTGCGCCCGGGCGCTCGCCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444996_2445045dup , CM000673.2:g.2444996_2445045dup	GRCh38
NC_000011.9:g.2466226_2466275dup , CM000673.1:g.2466226_2466275dup	GRCh37
NC_000011.8:g.2422802_2422851dup	NCBI36
NG_008935.1:g.5006_5055dup , LRG_287:g.5006_5055dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+288_24-338dup	ENSP00000434560.2:n.23+288_24-338dup
ENST00000155840.9:c.-103_-54dup	ENSP00000155840.2:n.-103_-54dup
ENST00000496887.6:c.23+288_24-338dup	ENSP00000434560.1:n.23+288_24-338dup
NM_000218.2:c.-103_-54dup , LRG_287t1:c.-103_-54dup	NP_000209.2:n.-103_-54dup