Canonical Allele Identifier: CA1761188547
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1806585035
gnomAD v4: 8-6877735-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877735C>G , CM000670.2:g.6877735C>G GRCh38
NC_000008.10:g.6735257C>G , CM000670.1:g.6735257C>G GRCh37
NC_000008.9:g.6722667C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.61+62G>C MANE Select ENSP00000297439.3:n.61+62G>C
ENST00000297439.3:c.61+62G>C ENSP00000297439.3:n.61+62G>C
NM_005218.3:c.61+62G>C NP_005209.1:n.61+62G>C
NM_005218.4:c.61+62G>C MANE Select NP_005209.1:n.61+62G>C
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