Canonical Allele Identifier: CA4612871

Gene: DEFB1

Linked Data

• dbSNP Id: rs373063416
• ExAC: 8:6735313 G / A
• gnomAD v2: 8-6735313-G-A
• gnomAD v3: 8-6877791-G-A
• gnomAD v4: 8-6877791-G-A
• MyVariant Identifiers: chr8:g.6735313G>A (hg19) ; chr8:g.6877791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877791G>A , CM000670.2:g.6877791G>A	GRCh38
NC_000008.10:g.6735313G>A , CM000670.1:g.6735313G>A	GRCh37
NC_000008.9:g.6722723G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.61+6C>T MANE Select	ENSP00000297439.3:n.61+6C>T
ENST00000297439.3:c.61+6C>T	ENSP00000297439.3:n.61+6C>T
NM_005218.3:c.61+6C>T	NP_005209.1:n.61+6C>T
NM_005218.4:c.61+6C>T MANE Select	NP_005209.1:n.61+6C>T