Canonical Allele Identifier: CA854600463
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1296355384
MyVariant Identifiers: chr8:g.6728123A>G (hg19) chr8:g.6870601A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870601A>G , CM000670.2:g.6870601A>G GRCh38
NC_000008.10:g.6728123A>G , CM000670.1:g.6728123A>G GRCh37
NC_000008.9:g.6715533A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.*80T>C MANE Select ENSP00000297439.3:n.*80T>C
ENST00000297439.3:c.*80T>C ENSP00000297439.3:n.*80T>C
NM_005218.3:c.*80T>C NP_005209.1:n.*80T>C
NM_005218.4:c.*80T>C MANE Select NP_005209.1:n.*80T>C
Search 100 bp 5'
Search 100 bp 3'