Canonical Allele Identifier: CA8990877

Gene: SERPINB8

Linked Data

• ClinVar Variation Id: 254200
• ClinVar RCV Id: RCV000240822 ; RCV002518554
• dbSNP Id: rs144666367
• ExAC: 18:61654237 C / T
• gnomAD v2: 18-61654237-C-T
• gnomAD v3: 18-63987003-C-T
• gnomAD v4: 18-63987003-C-T
• MyVariant Identifiers: chr18:g.61654237C>T (hg19) ; chr18:g.63987003C>T (hg38)
• PubMed: PMID:27476651

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63987003C>T , CM000680.2:g.63987003C>T	GRCh38
NC_000018.9:g.61654237C>T , CM000680.1:g.61654237C>T	GRCh37
NC_000018.8:g.59805217C>T	NCBI36
NG_052876.1:g.21976C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397985.7:c.850C>T MANE Select	ENSP00000381072.2:p.Arg284Ter
ENST00000636430.1:c.720+1758C>T	ENSP00000489949.1:n.720+1758C>T
ENST00000295211.5:c.586C>T
ENST00000353706.6:c.850C>T	ENSP00000331368.3:p.Arg284Ter
ENST00000397985.6:c.850C>T	ENSP00000381072.2:p.Arg284Ter
ENST00000493661.2:c.70+1758C>T
ENST00000542677.5:c.304C>T	ENSP00000438328.1:p.Arg102Ter
NM_001276490.1:c.304C>T	NP_001263419.1:p.Arg102Ter
NM_002640.3:c.850C>T	NP_002631.3:p.Arg284Ter
NM_198833.1:c.850C>T	NP_942130.1:p.Arg284Ter
XM_006722484.1:c.*17C>T	XP_006722547.1:n.*17C>T
XM_011526025.1:c.720+1758C>T	XP_011524327.1:n.720+1758C>T
NM_001348367.1:c.720+1758C>T	NP_001335296.1:n.720+1758C>T
NM_001348368.1:c.*17C>T	NP_001335297.1:n.*17C>T
NM_001348369.1:c.*17C>T	NP_001335298.1:n.*17C>T
NM_001348370.1:c.310C>T	NP_001335299.1:p.Arg104Ter
NM_001366198.1:c.850C>T	NP_001353127.1:p.Arg284Ter
NR_145571.1:n.735C>T
XM_024451194.1:c.310C>T	XP_024306962.1:p.Arg104Ter
XM_024451195.1:c.310C>T	XP_024306963.1:p.Arg104Ter
NM_001348367.2:c.720+1758C>T	NP_001335296.1:n.720+1758C>T
NM_001348368.2:c.*17C>T	NP_001335297.1:n.*17C>T
NM_001348369.2:c.*17C>T	NP_001335298.1:n.*17C>T
NM_001348370.2:c.310C>T	NP_001335299.1:p.Arg104Ter
NM_002640.4:c.850C>T MANE Select	NP_002631.3:p.Arg284Ter
NR_145571.2:n.683C>T
NM_001276490.2:c.304C>T	NP_001263419.1:p.Arg102Ter
NM_198833.2:c.850C>T	NP_942130.1:p.Arg284Ter