Canonical Allele Identifier: CA4612870

Gene: DEFB1

Linked Data

• dbSNP Id: rs551397658
• ExAC: 8:6735312 A / C
• gnomAD v2: 8-6735312-A-C
• gnomAD v3: 8-6877790-A-C
• gnomAD v4: 8-6877790-A-C
• MyVariant Identifiers: chr8:g.6735312A>C (hg19) ; chr8:g.6877790A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877790A>C , CM000670.2:g.6877790A>C	GRCh38
NC_000008.10:g.6735312A>C , CM000670.1:g.6735312A>C	GRCh37
NC_000008.9:g.6722722A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.61+7T>G MANE Select	ENSP00000297439.3:n.61+7T>G
ENST00000297439.3:c.61+7T>G	ENSP00000297439.3:n.61+7T>G
NM_005218.3:c.61+7T>G	NP_005209.1:n.61+7T>G
NM_005218.4:c.61+7T>G MANE Select	NP_005209.1:n.61+7T>G