Canonical Allele Identifier: CA4612854
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs368437938
ExAC: 8:6735269 A / G
gnomAD v2: 8-6735269-A-G
gnomAD v3: 8-6877747-A-G
gnomAD v4: 8-6877747-A-G
MyVariant Identifiers: chr8:g.6735269A>G (hg19) chr8:g.6877747A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877747A>G , CM000670.2:g.6877747A>G GRCh38
NC_000008.10:g.6735269A>G , CM000670.1:g.6735269A>G GRCh37
NC_000008.9:g.6722679A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+50T>C MANE Select ENSP00000297439.3:n.61+50T>C
ENST00000297439.3:c.61+50T>C ENSP00000297439.3:n.61+50T>C
NM_005218.3:c.61+50T>C NP_005209.1:n.61+50T>C
NM_005218.4:c.61+50T>C MANE Select NP_005209.1:n.61+50T>C
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