Canonical Allele Identifier: CA597114456
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1299046034
gnomAD v2: 11-2869743-A-AGGGCCT
gnomAD v4: 11-2848513-A-AGGGCCT
MyVariant Identifiers: chr11:g.2869743_2869744insGGGCCT (hg19) chr11:g.2848513_2848514insGGGCCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848522_2848527dup , CM000673.2:g.2848522_2848527dup GRCh38
NC_000011.9:g.2869752_2869757dup , CM000673.1:g.2869752_2869757dup GRCh37
NC_000011.8:g.2826328_2826333dup NCBI36
NG_008935.1:g.408532_408537dup , LRG_287:g.408532_408537dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*519_*524dup (KCNQ1) ENSP00000434560.2:n.*519_*524dup
ENST00000155840.12:c.*519_*524dup (KCNQ1) MANE Select ENSP00000155840.2:n.*519_*524dup
ENST00000335475.6:c.*519_*524dup (KCNQ1) ENSP00000334497.5:n.*519_*524dup
ENST00000155840.9:c.*519_*524dup (KCNQ1) ENSP00000155840.2:n.*519_*524dup
NM_000218.2:c.*519_*524dup , LRG_287t1:c.*519_*524dup (KCNQ1) NP_000209.2:n.*519_*524dup
NM_181798.1:c.*519_*524dup , LRG_287t2:c.*519_*524dup (KCNQ1) NP_861463.1:n.*519_*524dup
NR_130721.1:n.778-8077_778-8072dup (KCNQ1-AS1)
NM_000218.3:c.*519_*524dup (KCNQ1) MANE Select NP_000209.2:n.*519_*524dup
Search 100 bp 5'
Search 100 bp 3'