Canonical Allele Identifier: CA14394871
Gene:
MyVariant.info:
GRCh38 chr17:g.8140435C>T
GRCh37 chr17:g.8043753C>T
gnomAD v2:
17:8043753 C / T
gnomAD v3:
17:8140435 C / T
gnomAD v4:
chr17-8140435-C-T
Joint Max Group AF 0.41618933 (NFE)
Genomes Max Group AF 0.41734745 (NFE)
Exomes Max Group AF 0.40727782 (NFE)
dbSNP:
2585408
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8140435C>T , CM000679.2:g.8140435C>T GRCh38
NC_000017.10:g.8043753C>T , CM000679.1:g.8043753C>T GRCh37
NC_000017.9:g.7984478C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934203.1:n.77+951C>T
Search 100 bp 5'
Search 100 bp 3'