Canonical Allele Identifier: CA370230976
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1007112265
gnomAD v4: 8-6877853-C-G
MyVariant Identifiers: chr8:g.6735375C>G (hg19) chr8:g.6877853C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877853C>G , CM000670.2:g.6877853C>G GRCh38
NC_000008.10:g.6735375C>G , CM000670.1:g.6735375C>G GRCh37
NC_000008.9:g.6722785C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.5G>C MANE Select ENSP00000297439.3:p.Arg2Thr
ENST00000297439.3:c.5G>C ENSP00000297439.3:p.Arg2Thr
NM_005218.3:c.5G>C NP_005209.1:p.Arg2Thr
NM_005218.4:c.5G>C MANE Select NP_005209.1:p.Arg2Thr
Search 100 bp 5'
Search 100 bp 3'