Canonical Allele Identifier: CA2626329292
Gene:

Linked Data

gnomAD v4: 14-94612256-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94612256C>A , CM000676.2:g.94612256C>A GRCh38
NC_000014.8:g.95078593C>A , CM000676.1:g.95078593C>A GRCh37
NC_000014.7:g.94148346C>A NCBI36
NG_012879.1:g.4880C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553947.1:c.805-41C>A
Search 100 bp 5'
Search 100 bp 3'