Canonical Allele Identifier: CA4612872

Gene: DEFB1

Linked Data

• dbSNP Id: rs200848360
• ExAC: 8:6735314 C / T
• gnomAD v2: 8-6735314-C-T
• gnomAD v3: 8-6877792-C-T
• gnomAD v4: 8-6877792-C-T
• MyVariant Identifiers: chr8:g.6735314C>T (hg19) ; chr8:g.6877792C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877792C>T , CM000670.2:g.6877792C>T	GRCh38
NC_000008.10:g.6735314C>T , CM000670.1:g.6735314C>T	GRCh37
NC_000008.9:g.6722724C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.61+5G>A MANE Select	ENSP00000297439.3:n.61+5G>A
ENST00000297439.3:c.61+5G>A	ENSP00000297439.3:n.61+5G>A
NM_005218.3:c.61+5G>A	NP_005209.1:n.61+5G>A
NM_005218.4:c.61+5G>A MANE Select	NP_005209.1:n.61+5G>A