Canonical Allele Identifier: CA171486020
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs527511251
gnomAD v3: 8-6877726-T-G
gnomAD v4: 8-6877726-T-G
MyVariant Identifiers: chr8:g.6735248T>G (hg19) chr8:g.6877726T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877726T>G , CM000670.2:g.6877726T>G GRCh38
NC_000008.10:g.6735248T>G , CM000670.1:g.6735248T>G GRCh37
NC_000008.9:g.6722658T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+71A>C MANE Select ENSP00000297439.3:n.61+71A>C
ENST00000297439.3:c.61+71A>C ENSP00000297439.3:n.61+71A>C
NM_005218.3:c.61+71A>C NP_005209.1:n.61+71A>C
NM_005218.4:c.61+71A>C MANE Select NP_005209.1:n.61+71A>C
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