Canonical Allele Identifier: CA934491104
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1813976808
gnomAD v3: 11-2848390-G-A
gnomAD v4: 11-2848390-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848390G>A , CM000673.2:g.2848390G>A GRCh38
NC_000011.9:g.2869620G>A , CM000673.1:g.2869620G>A GRCh37
NC_000011.8:g.2826196G>A NCBI36
NG_008935.1:g.408400G>A , LRG_287:g.408400G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.*387G>A (KCNQ1) ENSP00000434560.2:n.*387G>A
ENST00000155840.12:c.*387G>A (KCNQ1) MANE Select ENSP00000155840.2:n.*387G>A
ENST00000335475.6:c.*387G>A (KCNQ1) ENSP00000334497.5:n.*387G>A
ENST00000155840.9:c.*387G>A (KCNQ1) ENSP00000155840.2:n.*387G>A
ENST00000526095.1:n.925G>A (KCNQ1)
NM_000218.2:c.*387G>A , LRG_287t1:c.*387G>A (KCNQ1) NP_000209.2:n.*387G>A
NM_181798.1:c.*387G>A , LRG_287t2:c.*387G>A (KCNQ1) NP_861463.1:n.*387G>A
NR_130721.1:n.778-7948C>T (KCNQ1-AS1)
NM_000218.3:c.*387G>A (KCNQ1) MANE Select NP_000209.2:n.*387G>A
Search 100 bp 5'
Search 100 bp 3'