Canonical Allele Identifier: CA934491114

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1848387408
• gnomAD v3: 11-2848415-CAGCCTCAAATCCAGGACCCT-C
• gnomAD v4: 11-2848415-CAGCCTCAAATCCAGGACCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848416_2848435del , CM000673.2:g.2848416_2848435del	GRCh38
NC_000011.9:g.2869646_2869665del , CM000673.1:g.2869646_2869665del	GRCh37
NC_000011.8:g.2826222_2826241del	NCBI36
NG_008935.1:g.408426_408445del , LRG_287:g.408426_408445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*413_*432del (KCNQ1)	ENSP00000434560.2:n.*413_*432del
ENST00000155840.12:c.*413_*432del (KCNQ1) MANE Select	ENSP00000155840.2:n.*413_*432del
ENST00000335475.6:c.*413_*432del (KCNQ1)	ENSP00000334497.5:n.*413_*432del
ENST00000155840.9:c.*413_*432del (KCNQ1)	ENSP00000155840.2:n.*413_*432del
ENST00000526095.1:n.951_970del (KCNQ1)
NM_000218.2:c.*413_*432del , LRG_287t1:c.*413_*432del (KCNQ1)	NP_000209.2:n.*413_*432del
NM_181798.1:c.*413_*432del , LRG_287t2:c.*413_*432del (KCNQ1)	NP_861463.1:n.*413_*432del
NR_130721.1:n.778-7993_778-7974del (KCNQ1-AS1)
NM_000218.3:c.*413_*432del (KCNQ1) MANE Select	NP_000209.2:n.*413_*432del