Canonical Allele Identifier: CA579664815

Gene: DEFB1

Linked Data

• dbSNP Id: rs1169835757
• gnomAD v2: 8-6735446-C-A
• gnomAD v3: 8-6877924-C-A
• gnomAD v4: 8-6877924-C-A
• MyVariant Identifiers: chr8:g.6735446C>A (hg19) ; chr8:g.6877924C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877924C>A , CM000670.2:g.6877924C>A	GRCh38
NC_000008.10:g.6735446C>A , CM000670.1:g.6735446C>A	GRCh37
NC_000008.9:g.6722856C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.-67G>T MANE Select	ENSP00000297439.3:n.-67G>T
ENST00000297439.3:c.-67G>T	ENSP00000297439.3:n.-67G>T
NM_005218.3:c.-67G>T	NP_005209.1:n.-67G>T
NM_005218.4:c.-67G>T MANE Select	NP_005209.1:n.-67G>T