Canonical Allele Identifier: CA2612011537

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2848082-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848084del , CM000673.2:g.2848084del	GRCh38
NC_000011.9:g.2869314del , CM000673.1:g.2869314del	GRCh37
NC_000011.8:g.2825890del	NCBI36
NG_008935.1:g.408094del , LRG_287:g.408094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*81del (KCNQ1)	ENSP00000434560.2:n.*81del
ENST00000155840.12:c.*81del (KCNQ1) MANE Select	ENSP00000155840.2:n.*81del
ENST00000335475.6:c.*81del (KCNQ1)	ENSP00000334497.5:n.*81del
ENST00000526095.2:c.*81del (KCNQ1)	ENSP00000494939.1:n.*81del
ENST00000155840.9:c.*81del (KCNQ1)	ENSP00000155840.2:n.*81del
ENST00000335475.5:c.*81del (KCNQ1)	ENSP00000334497.5:n.*81del
ENST00000526095.1:n.619del (KCNQ1)
NM_000218.2:c.*81del , LRG_287t1:c.*81del (KCNQ1)	NP_000209.2:n.*81del
NM_181798.1:c.*81del , LRG_287t2:c.*81del (KCNQ1)	NP_861463.1:n.*81del
NR_130721.1:n.778-7641del (KCNQ1-AS1)
NM_000218.3:c.*81del (KCNQ1) MANE Select	NP_000209.2:n.*81del