Canonical Allele Identifier: CA1065917060
Gene:
gnomAD v3:
4:99475533 G / A
gnomAD v4:
chr4-99475533-G-A
Joint Max Group AF 0.00000801 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
dbSNP:
2654849
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99475533G>A , CM000666.2:g.99475533G>A GRCh38
NC_000004.11:g.100396690G>A , CM000666.1:g.100396690G>A GRCh37
NC_000004.10:g.100615713G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.242+1215C>T
Search 100 bp 5'
Search 100 bp 3'