Canonical Allele Identifier: CA15539911
Gene:
COSMIC:
COSN16284847
dbSNP:
11995572
gnomAD v2:
8:89592083 G / T
gnomAD v3:
8:88579854 G / T
gnomAD v4:
chr8-88579854-G-T
Joint Max Group AF 0.39185991 (AFR)
Genomes Max Group AF 0.39185991 (AFR)
MyVariant.info:
GRCh38 chr8:g.88579854G>T
GRCh37 chr8:g.89592083G>T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88579854G>T , CM000670.2:g.88579854G>T GRCh38
NC_000008.10:g.89592083G>T , CM000670.1:g.89592083G>T GRCh37
NC_000008.9:g.89661199G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928383.1:n.329+8537C>A
XR_001745651.2:n.1081+8537C>A
XR_001745653.2:n.416+37044G>T
XR_928383.3:n.1081+8537C>A
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