ClinGen Allele Registry
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Canonical Allele Identifier:
CA900541094
Gene: CPHL1P
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr3:g.149259527A>C
GRCh37
chr3:g.148977314A>C
Linked Data - NCBI & NCI
dbSNP:
7617219
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.149259527A>C , CM000665.2:g.149259527A>C
GRCh38
NC_000003.11:g.148977314A>C , CM000665.1:g.148977314A>C
GRCh37
NC_000003.10:g.150460004A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000461341.2:n.1210-1938T>G
Search 100 bp 5'
Search 100 bp 3'