Canonical Allele Identifier: CA579664808

Gene: DEFB1

Linked Data

• dbSNP Id: rs1180385507
• gnomAD v2: 8-6735415-T-C
• gnomAD v4: 8-6877893-T-C
• MyVariant Identifiers: chr8:g.6735415T>C (hg19) ; chr8:g.6877893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877893T>C , CM000670.2:g.6877893T>C	GRCh38
NC_000008.10:g.6735415T>C , CM000670.1:g.6735415T>C	GRCh37
NC_000008.9:g.6722825T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.-36A>G MANE Select	ENSP00000297439.3:n.-36A>G
ENST00000297439.3:c.-36A>G	ENSP00000297439.3:n.-36A>G
NM_005218.3:c.-36A>G	NP_005209.1:n.-36A>G
NM_005218.4:c.-36A>G MANE Select	NP_005209.1:n.-36A>G