Canonical Allele Identifier: CA2612011971
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 11-2848445-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848445A>T , CM000673.2:g.2848445A>T GRCh38
NC_000011.9:g.2869675A>T , CM000673.1:g.2869675A>T GRCh37
NC_000011.8:g.2826251A>T NCBI36
NG_008935.1:g.408455A>T , LRG_287:g.408455A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*442A>T (KCNQ1) ENSP00000434560.2:n.*442A>T
ENST00000155840.12:c.*442A>T (KCNQ1) MANE Select ENSP00000155840.2:n.*442A>T
ENST00000335475.6:c.*442A>T (KCNQ1) ENSP00000334497.5:n.*442A>T
ENST00000155840.9:c.*442A>T (KCNQ1) ENSP00000155840.2:n.*442A>T
ENST00000526095.1:n.980A>T (KCNQ1)
NM_000218.2:c.*442A>T , LRG_287t1:c.*442A>T (KCNQ1) NP_000209.2:n.*442A>T
NM_181798.1:c.*442A>T , LRG_287t2:c.*442A>T (KCNQ1) NP_861463.1:n.*442A>T
NR_130721.1:n.778-8003T>A (KCNQ1-AS1)
NM_000218.3:c.*442A>T (KCNQ1) MANE Select NP_000209.2:n.*442A>T
Search 100 bp 5'
Search 100 bp 3'