ClinGen Allele Registry
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Canonical Allele Identifier:
CA12019134
Gene:
Linked Data - Expert Curation
COSMIC:
COSN17133018 (not active)
COSN17133837 (not active)
COSN17135618 (not active)
COSN17137425 (not active)
COSN17138385 (not active)
COSN17139298 (not active)
COSN17140189 (not active)
COSN17143290 (not active)
COSN17145057 (not active)
COSN17145974 (not active)
COSN17150439 (not active)
COSN17152412 (not active)
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.1895715C>T
GRCh37
chr5:g.1895829C>T
Linked Data - Sequence & Population
gnomAD v2:
5:1895829 C / T
gnomAD v3:
5:1895715 C / T
gnomAD v4:
chr5-1895715-C-T
Joint Max Group AF
0.50540634 (SAS)
Genomes Max Group AF
0.50540634 (SAS)
Linked Data - NCBI & NCI
dbSNP:
12653946
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1895715C>T , CM000667.2:g.1895715C>T
GRCh38
NC_000005.9:g.1895829C>T , CM000667.1:g.1895829C>T
GRCh37
NC_000005.8:g.1948829C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_109912.1:n.110-2330C>T
Search 100 bp 5'
Search 100 bp 3'