Canonical Allele Identifier: CA597114430
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1360886456
gnomAD v2: 11-2869607-G-A
gnomAD v4: 11-2848377-G-A
MyVariant Identifiers: chr11:g.2869607G>A (hg19) chr11:g.2848377G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848377G>A , CM000673.2:g.2848377G>A GRCh38
NC_000011.9:g.2869607G>A , CM000673.1:g.2869607G>A GRCh37
NC_000011.8:g.2826183G>A NCBI36
NG_008935.1:g.408387G>A , LRG_287:g.408387G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*374G>A (KCNQ1) ENSP00000434560.2:n.*374G>A
ENST00000155840.12:c.*374G>A (KCNQ1) MANE Select ENSP00000155840.2:n.*374G>A
ENST00000335475.6:c.*374G>A (KCNQ1) ENSP00000334497.5:n.*374G>A
ENST00000155840.9:c.*374G>A (KCNQ1) ENSP00000155840.2:n.*374G>A
ENST00000526095.1:n.912G>A (KCNQ1)
NM_000218.2:c.*374G>A , LRG_287t1:c.*374G>A (KCNQ1) NP_000209.2:n.*374G>A
NM_181798.1:c.*374G>A , LRG_287t2:c.*374G>A (KCNQ1) NP_861463.1:n.*374G>A
NR_130721.1:n.778-7935C>T (KCNQ1-AS1)
NM_000218.3:c.*374G>A (KCNQ1) MANE Select NP_000209.2:n.*374G>A
Search 100 bp 5'
Search 100 bp 3'