Canonical Allele Identifier: CA2626329304
Gene:

Linked Data

gnomAD v4: 14-94612269-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94612269C>A , CM000676.2:g.94612269C>A GRCh38
NC_000014.8:g.95078606C>A , CM000676.1:g.95078606C>A GRCh37
NC_000014.7:g.94148359C>A NCBI36
NG_012879.1:g.4893C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553947.1:c.805-28C>A
Search 100 bp 5'
Search 100 bp 3'