Canonical Allele Identifier: CA174432

Gene: SERPINB4 SERPINB3

Linked Data

• ClinVar Variation Id: 161604
• ClinVar RCV Id: RCV000149140
• dbSNP Id: rs193921093
• gnomAD v4: 18-63639770-A-T
• COSMIC: COSM1178295
• MyVariant Identifiers: chr18:g.61307004A>T (hg19) ; chr18:g.63639770A>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63639770A>T , CM000680.2:g.63639770A>T	GRCh38
NC_000018.9:g.61307004A>T , CM000680.1:g.61307004A>T	GRCh37
NC_000018.8:g.59457984A>T	NCBI36
NG_053001.1:g.9550T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341074.10:c.476T>A (SERPINB4) MANE Select	ENSP00000343445.5:p.Ile159Asn
ENST00000341074.9:c.476T>A (SERPINB4)	ENSP00000343445.5:p.Ile159Asn
ENST00000356424.10:c.769-1647T>A (SERPINB3)	ENSP00000348795.7:n.769-1647T>A
ENST00000413673.5:c.481T>A (SERPINB4)
ENST00000436264.1:c.347T>A (SERPINB4)	ENSP00000399796.1:p.Ile116Asn
NM_002974.3:c.476T>A (SERPINB4)	NP_002965.1:p.Ile159Asn
NM_175041.1:c.476T>A (SERPINB4)	NP_778206.1:p.Ile159Asn
XM_011526138.1:c.476T>A (SERPINB4)	XP_011524440.1:p.Ile159Asn
NM_002974.4:c.476T>A (SERPINB4) MANE Select	NP_002965.1:p.Ile159Asn
NM_175041.2:c.476T>A (SERPINB4)	NP_778206.1:p.Ile159Asn