Canonical Allele Identifier: CA2612002538
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2583427-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583427C>A , CM000673.2:g.2583427C>A GRCh38
NC_000011.9:g.2604657C>A , CM000673.1:g.2604657C>A GRCh37
NC_000011.8:g.2561233C>A NCBI36
NG_008935.1:g.143437C>A , LRG_287:g.143437C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.661-8C>A ENSP00000434560.2:n.661-8C>A
ENST00000646564.2:c.478-8C>A ENSP00000495806.2:n.478-8C>A
ENST00000155840.12:c.922-8C>A MANE Select ENSP00000155840.2:n.922-8C>A
ENST00000335475.6:c.541-8C>A ENSP00000334497.5:n.541-8C>A
ENST00000646564.1:c.124-8C>A ENSP00000495806.1:n.124-8C>A
ENST00000155840.9:c.922-8C>A ENSP00000155840.2:n.922-8C>A
ENST00000335475.5:c.541-8C>A ENSP00000334497.5:n.541-8C>A
NM_000218.2:c.922-8C>A , LRG_287t1:c.922-8C>A NP_000209.2:n.922-8C>A
NM_181798.1:c.541-8C>A , LRG_287t2:c.541-8C>A NP_861463.1:n.541-8C>A
NM_000218.3:c.922-8C>A MANE Select NP_000209.2:n.922-8C>A
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