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Canonical Allele Identifier:
CA14281327
Gene: CTF2P
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr16:g.30907166C>G
GRCh37
chr16:g.30918487C>G
Linked Data - Sequence & Population
gnomAD v2:
16:30918487 C / G
gnomAD v3:
16:30907166 C / G
gnomAD v4:
chr16-30907166-C-G
Joint Max Group AF
0.88220317 (EAS)
Genomes Max Group AF
0.88220317 (EAS)
Linked Data - NCBI & NCI
dbSNP:
11649653
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.30907166C>G , CM000678.2:g.30907166C>G
GRCh38
NC_000016.9:g.30918487C>G , CM000678.1:g.30918487C>G
GRCh37
NC_000016.8:g.30825988C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000412003.1:n.153+318G>C
Search 100 bp 5'
Search 100 bp 3'