Canonical Allele Identifier: CA4612906

Gene: DEFB1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877895G>A , CM000670.2:g.6877895G>A	GRCh38
NC_000008.10:g.6735417G>A , CM000670.1:g.6735417G>A	GRCh37
NC_000008.9:g.6722827G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297439.4:c.-38C>T MANE Select	ENSP00000297439.3:n.-38C>T
ENST00000297439.3:c.-38C>T	ENSP00000297439.3:n.-38C>T
NM_005218.3:c.-38C>T	NP_005209.1:n.-38C>T
NM_005218.4:c.-38C>T MANE Select	NP_005209.1:n.-38C>T