Canonical Allele Identifier: CA2612012041
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 11-2848547-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848547T>G , CM000673.2:g.2848547T>G GRCh38
NC_000011.9:g.2869777T>G , CM000673.1:g.2869777T>G GRCh37
NC_000011.8:g.2826353T>G NCBI36
NG_008935.1:g.408557T>G , LRG_287:g.408557T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*544T>G (KCNQ1) ENSP00000434560.2:n.*544T>G
ENST00000155840.12:c.*544T>G (KCNQ1) MANE Select ENSP00000155840.2:n.*544T>G
ENST00000335475.6:c.*544T>G (KCNQ1) ENSP00000334497.5:n.*544T>G
ENST00000155840.9:c.*544T>G (KCNQ1) ENSP00000155840.2:n.*544T>G
NM_000218.2:c.*544T>G , LRG_287t1:c.*544T>G (KCNQ1) NP_000209.2:n.*544T>G
NM_181798.1:c.*544T>G , LRG_287t2:c.*544T>G (KCNQ1) NP_861463.1:n.*544T>G
NR_130721.1:n.778-8105A>C (KCNQ1-AS1)
NM_000218.3:c.*544T>G (KCNQ1) MANE Select NP_000209.2:n.*544T>G
Search 100 bp 5'
Search 100 bp 3'