Canonical Allele Identifier: CA1948349993
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1848388318
gnomAD v4: 11-2848448-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848448C>T , CM000673.2:g.2848448C>T GRCh38
NC_000011.9:g.2869678C>T , CM000673.1:g.2869678C>T GRCh37
NC_000011.8:g.2826254C>T NCBI36
NG_008935.1:g.408458C>T , LRG_287:g.408458C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*445C>T (KCNQ1) ENSP00000434560.2:n.*445C>T
ENST00000155840.12:c.*445C>T (KCNQ1) MANE Select ENSP00000155840.2:n.*445C>T
ENST00000335475.6:c.*445C>T (KCNQ1) ENSP00000334497.5:n.*445C>T
ENST00000155840.9:c.*445C>T (KCNQ1) ENSP00000155840.2:n.*445C>T
ENST00000526095.1:n.983C>T (KCNQ1)
NM_000218.2:c.*445C>T , LRG_287t1:c.*445C>T (KCNQ1) NP_000209.2:n.*445C>T
NM_181798.1:c.*445C>T , LRG_287t2:c.*445C>T (KCNQ1) NP_861463.1:n.*445C>T
NR_130721.1:n.778-8006G>A (KCNQ1-AS1)
NM_000218.3:c.*445C>T (KCNQ1) MANE Select NP_000209.2:n.*445C>T
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Search 100 bp 3'