Canonical Allele Identifier: CA2612011856

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2848293-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848296del , CM000673.2:g.2848296del	GRCh38
NC_000011.9:g.2869526del , CM000673.1:g.2869526del	GRCh37
NC_000011.8:g.2826102del	NCBI36
NG_008935.1:g.408306del , LRG_287:g.408306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*293del (KCNQ1)	ENSP00000434560.2:n.*293del
ENST00000155840.12:c.*293del (KCNQ1) MANE Select	ENSP00000155840.2:n.*293del
ENST00000335475.6:c.*293del (KCNQ1)	ENSP00000334497.5:n.*293del
ENST00000155840.9:c.*293del (KCNQ1)	ENSP00000155840.2:n.*293del
ENST00000526095.1:n.831del (KCNQ1)
NM_000218.2:c.*293del , LRG_287t1:c.*293del (KCNQ1)	NP_000209.2:n.*293del
NM_181798.1:c.*293del , LRG_287t2:c.*293del (KCNQ1)	NP_861463.1:n.*293del
NR_130721.1:n.778-7852del (KCNQ1-AS1)
NM_000218.3:c.*293del (KCNQ1) MANE Select	NP_000209.2:n.*293del