ClinGen Allele Registry
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Canonical Allele Identifier:
CA103713941
Gene: ENPEP
HGNC
NCBI
Linked Data
dbSNP Id:
rs6825911
gnomAD v2:
4-111381638-C-T
gnomAD v3:
4-110460482-C-T
gnomAD v4:
4-110460482-C-T
MyVariant Identifiers:
chr4:g.111381638C>T (hg19)
chr4:g.110460482C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.110460482C>T , CM000666.2:g.110460482C>T
GRCh38
NC_000004.11:g.111381638C>T , CM000666.1:g.111381638C>T
GRCh37
NC_000004.10:g.111601087C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000510961.1:n.73-28059C>T
Search 100 bp 5'
Search 100 bp 3'