Canonical Allele Identifier: CA2612008518
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2768784-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768784G>C , CM000673.2:g.2768784G>C GRCh38
NC_000011.9:g.2790014G>C , CM000673.1:g.2790014G>C GRCh37
NC_000011.8:g.2746590G>C NCBI36
NG_008935.1:g.328794G>C , LRG_287:g.328794G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1158-60G>C ENSP00000434560.2:n.1158-60G>C
ENST00000646564.2:c.975-60G>C ENSP00000495806.2:n.975-60G>C
ENST00000155840.12:c.1515-60G>C MANE Select ENSP00000155840.2:n.1515-60G>C
ENST00000335475.6:c.1134-60G>C ENSP00000334497.5:n.1134-60G>C
ENST00000646564.1:c.621-60G>C ENSP00000495806.1:n.621-60G>C
ENST00000155840.9:c.1515-60G>C ENSP00000155840.2:n.1515-60G>C
ENST00000335475.5:c.1134-60G>C ENSP00000334497.5:n.1134-60G>C
NM_000218.2:c.1515-60G>C , LRG_287t1:c.1515-60G>C NP_000209.2:n.1515-60G>C
NM_181798.1:c.1134-60G>C , LRG_287t2:c.1134-60G>C NP_861463.1:n.1134-60G>C
NM_000218.3:c.1515-60G>C MANE Select NP_000209.2:n.1515-60G>C
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