Canonical Allele Identifier: CA579664750
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1225095417
gnomAD v2: 8-6735288-A-G
gnomAD v4: 8-6877766-A-G
MyVariant Identifiers: chr8:g.6735288A>G (hg19) chr8:g.6877766A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877766A>G , CM000670.2:g.6877766A>G GRCh38
NC_000008.10:g.6735288A>G , CM000670.1:g.6735288A>G GRCh37
NC_000008.9:g.6722698A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+31T>C MANE Select ENSP00000297439.3:n.61+31T>C
ENST00000297439.3:c.61+31T>C ENSP00000297439.3:n.61+31T>C
NM_005218.3:c.61+31T>C NP_005209.1:n.61+31T>C
NM_005218.4:c.61+31T>C MANE Select NP_005209.1:n.61+31T>C
Search 100 bp 5'
Search 100 bp 3'