×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA459186116
Gene: DEFB1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1158323190
gnomAD v2:
8-6735323-G-T
gnomAD v3:
8-6877801-G-T
gnomAD v4:
8-6877801-G-T
MyVariant Identifiers:
chr8:g.6735323G>T (hg19)
chr8:g.6877801G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.6877801G>T , CM000670.2:g.6877801G>T
GRCh38
NC_000008.10:g.6735323G>T , CM000670.1:g.6735323G>T
GRCh37
NC_000008.9:g.6722733G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000297439.4:c.57C>A
MANE Select
ENSP00000297439.3:p.Ala19=
ENST00000297439.3:c.57C>A
ENSP00000297439.3:p.Ala19=
NM_005218.3:c.57C>A
NP_005209.1:p.Ala19=
NM_005218.4:c.57C>A
MANE Select
NP_005209.1:p.Ala19=
Search 100 bp 5'
Search 100 bp 3'