Canonical Allele Identifier: CA597114455
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1383429461
gnomAD v2: 11-2869742-G-GAGGGCC
gnomAD v4: 11-2848512-G-GAGGGCC
MyVariant Identifiers: chr11:g.2869742_2869743insAGGGCC (hg19) chr11:g.2848512_2848513insAGGGCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848513_2848518dup , CM000673.2:g.2848513_2848518dup GRCh38
NC_000011.9:g.2869743_2869748dup , CM000673.1:g.2869743_2869748dup GRCh37
NC_000011.8:g.2826319_2826324dup NCBI36
NG_008935.1:g.408523_408528dup , LRG_287:g.408523_408528dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*510_*515dup (KCNQ1) ENSP00000434560.2:n.*510_*515dup
ENST00000155840.12:c.*510_*515dup (KCNQ1) MANE Select ENSP00000155840.2:n.*510_*515dup
ENST00000335475.6:c.*510_*515dup (KCNQ1) ENSP00000334497.5:n.*510_*515dup
ENST00000155840.9:c.*510_*515dup (KCNQ1) ENSP00000155840.2:n.*510_*515dup
NM_000218.2:c.*510_*515dup , LRG_287t1:c.*510_*515dup (KCNQ1) NP_000209.2:n.*510_*515dup
NM_181798.1:c.*510_*515dup , LRG_287t2:c.*510_*515dup (KCNQ1) NP_861463.1:n.*510_*515dup
NR_130721.1:n.778-8076_778-8071dup (KCNQ1-AS1)
NM_000218.3:c.*510_*515dup (KCNQ1) MANE Select NP_000209.2:n.*510_*515dup
Search 100 bp 5'
Search 100 bp 3'