Canonical Allele Identifier: CA379115632
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444706-C-A
MyVariant Identifiers: chr11:g.2465936C>A (hg19) chr11:g.2444706C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444706C>A , CM000673.2:g.2444706C>A GRCh38
NC_000011.9:g.2465936C>A , CM000673.1:g.2465936C>A GRCh37
NC_000011.8:g.2422512C>A NCBI36
NG_008935.1:g.4716C>A , LRG_287:g.4716C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.21C>A ENSP00000434560.2:p.Ser7Arg
ENST00000496887.6:c.21C>A ENSP00000434560.1:p.Ser7Arg
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