Canonical Allele Identifier: CA171486462

Gene: DEFB1

Linked Data

• dbSNP Id: rs928541950
• gnomAD v4: 8-6877928-C-G
• MyVariant Identifiers: chr8:g.6735450C>G (hg19) ; chr8:g.6877928C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877928C>G , CM000670.2:g.6877928C>G	GRCh38
NC_000008.10:g.6735450C>G , CM000670.1:g.6735450C>G	GRCh37
NC_000008.9:g.6722860C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.-71G>C MANE Select	ENSP00000297439.3:n.-71G>C
ENST00000297439.3:c.-71G>C	ENSP00000297439.3:n.-71G>C
NM_005218.3:c.-71G>C	NP_005209.1:n.-71G>C
NM_005218.4:c.-71G>C MANE Select	NP_005209.1:n.-71G>C