Canonical Allele Identifier: CA854608804

Gene: DEFB1

Linked Data

• dbSNP Id: rs1310691586
• MyVariant Identifiers: chr8:g.6735144G>C (hg19) ; chr8:g.6877622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877622G>C , CM000670.2:g.6877622G>C	GRCh38
NC_000008.10:g.6735144G>C , CM000670.1:g.6735144G>C	GRCh37
NC_000008.9:g.6722554G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297439.4:c.61+175C>G MANE Select	ENSP00000297439.3:n.61+175C>G
ENST00000297439.3:c.61+175C>G	ENSP00000297439.3:n.61+175C>G
NM_005218.3:c.61+175C>G	NP_005209.1:n.61+175C>G
NM_005218.4:c.61+175C>G MANE Select	NP_005209.1:n.61+175C>G