Canonical Allele Identifier: CA4612908

Gene: DEFB1

Linked Data

• dbSNP Id: rs752042487
• ExAC: 8:6735424 G / C
• gnomAD v2: 8-6735424-G-C
• gnomAD v3: 8-6877902-G-C
• gnomAD v4: 8-6877902-G-C
• MyVariant Identifiers: chr8:g.6735424G>C (hg19) ; chr8:g.6877902G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877902G>C , CM000670.2:g.6877902G>C	GRCh38
NC_000008.10:g.6735424G>C , CM000670.1:g.6735424G>C	GRCh37
NC_000008.9:g.6722834G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.-45C>G MANE Select	ENSP00000297439.3:n.-45C>G
ENST00000297439.3:c.-45C>G	ENSP00000297439.3:n.-45C>G
NM_005218.3:c.-45C>G	NP_005209.1:n.-45C>G
NM_005218.4:c.-45C>G MANE Select	NP_005209.1:n.-45C>G