Canonical Allele Identifier: CA174049320
Gene:
MyVariant.info:
GRCh38 chr8:g.24912339A>T
GRCh37 chr8:g.24769852A>T
gnomAD v3:
8:24912339 A / T
gnomAD v4:
chr8-24912339-A-T
Joint Max Group AF 0.00001973 (NFE)
Genomes Max Group AF 0.00001973 (NFE)
dbSNP:
1457266
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24912339A>T , CM000670.2:g.24912339A>T GRCh38
NC_000008.10:g.24769852A>T , CM000670.1:g.24769852A>T GRCh37
NC_000008.9:g.24825757A>T NCBI36
NG_008388.1:g.3579A>T

Transcript Alleles

HGVS Amino-acid Change
XR_949590.1:n.194+8445T>A
Search 100 bp 5'
Search 100 bp 3'