ClinGen Allele Registry
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Canonical Allele Identifier:
CA16341996
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr8:g.88981259C>T
GRCh37
chr8:g.89993488C>T
Linked Data - Sequence & Population
gnomAD v2:
8:89993488 C / T
gnomAD v3:
8:88981259 C / T
gnomAD v4:
8:88981259 C / T
Linked Data - NCBI & NCI
dbSNP:
10429371
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88981259C>T , CM000670.2:g.88981259C>T
GRCh38
NC_000008.10:g.89993488C>T , CM000670.1:g.89993488C>T
GRCh37
NC_000008.9:g.90062604C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002956667.1:n.179-99198G>A
Search 100 bp 5'
Search 100 bp 3'