Canonical Allele Identifier: CA12843498
Gene:
COSMIC:
COSN16971754 (not active)
MyVariant.info:
GRCh38 chr8:g.97154685T>C
GRCh37 chr8:g.98166913T>C
gnomAD v2:
8:98166913 T / C
gnomAD v3:
8:97154685 T / C
gnomAD v4:
chr8-97154685-T-C
Joint Max Group AF 0.77393232 (NFE)
Genomes Max Group AF 0.77393232 (NFE)
dbSNP:
1835740
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97154685T>C , CM000670.2:g.97154685T>C GRCh38
NC_000008.10:g.98166913T>C , CM000670.1:g.98166913T>C GRCh37
NC_000008.9:g.98236089T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.472-201075A>G
XR_928434.1:n.1748+4013T>C
XR_928435.1:n.1748+4013T>C
XR_928434.2:n.1770+4013T>C
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