Canonical Allele Identifier: CA370230949
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1240548315
gnomAD v2: 8-6735367-A-G
gnomAD v4: 8-6877845-A-G
MyVariant Identifiers: chr8:g.6735367A>G (hg19) chr8:g.6877845A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877845A>G , CM000670.2:g.6877845A>G GRCh38
NC_000008.10:g.6735367A>G , CM000670.1:g.6735367A>G GRCh37
NC_000008.9:g.6722777A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.13T>C MANE Select ENSP00000297439.3:p.Tyr5His
ENST00000297439.3:c.13T>C ENSP00000297439.3:p.Tyr5His
NM_005218.3:c.13T>C NP_005209.1:p.Tyr5His
NM_005218.4:c.13T>C MANE Select NP_005209.1:p.Tyr5His
Search 100 bp 5'
Search 100 bp 3'