Canonical Allele Identifier: CA2612002355
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2583299-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583299T>C , CM000673.2:g.2583299T>C GRCh38
NC_000011.9:g.2604529T>C , CM000673.1:g.2604529T>C GRCh37
NC_000011.8:g.2561105T>C NCBI36
NG_008935.1:g.143309T>C , LRG_287:g.143309T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.661-136T>C ENSP00000434560.2:n.661-136T>C
ENST00000646564.2:c.478-136T>C ENSP00000495806.2:n.478-136T>C
ENST00000155840.12:c.922-136T>C MANE Select ENSP00000155840.2:n.922-136T>C
ENST00000335475.6:c.541-136T>C ENSP00000334497.5:n.541-136T>C
ENST00000646564.1:c.124-136T>C ENSP00000495806.1:n.124-136T>C
ENST00000155840.9:c.922-136T>C ENSP00000155840.2:n.922-136T>C
ENST00000335475.5:c.541-136T>C ENSP00000334497.5:n.541-136T>C
NM_000218.2:c.922-136T>C , LRG_287t1:c.922-136T>C NP_000209.2:n.922-136T>C
NM_181798.1:c.541-136T>C , LRG_287t2:c.541-136T>C NP_861463.1:n.541-136T>C
NM_000218.3:c.922-136T>C MANE Select NP_000209.2:n.922-136T>C
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