Canonical Allele Identifier: CA171485929

Gene: DEFB1

Linked Data

• dbSNP Id: rs1033851013
• gnomAD v4: 8-6877654-A-G
• MyVariant Identifiers: chr8:g.6735176A>G (hg19) ; chr8:g.6877654A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877654A>G , CM000670.2:g.6877654A>G	GRCh38
NC_000008.10:g.6735176A>G , CM000670.1:g.6735176A>G	GRCh37
NC_000008.9:g.6722586A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297439.4:c.61+143T>C MANE Select	ENSP00000297439.3:n.61+143T>C
ENST00000297439.3:c.61+143T>C	ENSP00000297439.3:n.61+143T>C
NM_005218.3:c.61+143T>C	NP_005209.1:n.61+143T>C
NM_005218.4:c.61+143T>C MANE Select	NP_005209.1:n.61+143T>C