Canonical Allele Identifier: CA379115579
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444689-A-G
MyVariant Identifiers: chr11:g.2465919A>G (hg19) chr11:g.2444689A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444689A>G , CM000673.2:g.2444689A>G GRCh38
NC_000011.9:g.2465919A>G , CM000673.1:g.2465919A>G GRCh37
NC_000011.8:g.2422495A>G NCBI36
NG_008935.1:g.4699A>G , LRG_287:g.4699A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.4A>G ENSP00000434560.2:p.Thr2Ala
ENST00000496887.6:c.4A>G ENSP00000434560.1:p.Thr2Ala
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