Canonical Allele Identifier: CA4612884

Gene: DEFB1

Linked Data

• dbSNP Id: rs535259402
• ExAC: 8:6735364 G / C
• gnomAD v2: 8-6735364-G-C
• MyVariant Identifiers: chr8:g.6735364G>C (hg19) ; chr8:g.6877842G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877842G>C , CM000670.2:g.6877842G>C	GRCh38
NC_000008.10:g.6735364G>C , CM000670.1:g.6735364G>C	GRCh37
NC_000008.9:g.6722774G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297439.4:c.16C>G MANE Select	ENSP00000297439.3:p.Leu6Val
ENST00000297439.3:c.16C>G	ENSP00000297439.3:p.Leu6Val
NM_005218.3:c.16C>G	NP_005209.1:p.Leu6Val
NM_005218.4:c.16C>G MANE Select	NP_005209.1:p.Leu6Val