Canonical Allele Identifier: CA4612857
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs775355047
ExAC: 8:6735277 C / A
gnomAD v2: 8-6735277-C-A
gnomAD v3: 8-6877755-C-A
gnomAD v4: 8-6877755-C-A
MyVariant Identifiers: chr8:g.6735277C>A (hg19) chr8:g.6877755C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877755C>A , CM000670.2:g.6877755C>A GRCh38
NC_000008.10:g.6735277C>A , CM000670.1:g.6735277C>A GRCh37
NC_000008.9:g.6722687C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.61+42G>T MANE Select ENSP00000297439.3:n.61+42G>T
ENST00000297439.3:c.61+42G>T ENSP00000297439.3:n.61+42G>T
NM_005218.3:c.61+42G>T NP_005209.1:n.61+42G>T
NM_005218.4:c.61+42G>T MANE Select NP_005209.1:n.61+42G>T
Search 100 bp 5'
Search 100 bp 3'