Canonical Allele Identifier: CA1367306

Gene: C4BPB

Linked Data

• ClinVar Variation Id: 402448
• ClinVar RCV Id: RCV000454757 ; RCV001692098
• dbSNP Id: rs3813948
• ExAC: 1:207269858 T / C
• gnomAD v2: 1-207269858-T-C
• gnomAD v3: 1-207096513-T-C
• gnomAD v4: 1-207096513-T-C
• MyVariant Identifiers: chr1:g.207269858T>C (hg19) ; chr1:g.207096513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207096513T>C , CM000663.2:g.207096513T>C	GRCh38
NC_000001.10:g.207269858T>C , CM000663.1:g.207269858T>C	GRCh37
NC_000001.9:g.205336481T>C	NCBI36
NG_029386.1:g.12647T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367078.8:c.410-9T>C MANE Select	ENSP00000356045.3:n.410-9T>C
ENST00000243611.9:c.410-9T>C	ENSP00000243611.5:n.410-9T>C
ENST00000367076.7:c.407-9T>C	ENSP00000356043.3:n.407-9T>C
ENST00000367078.7:c.410-9T>C	ENSP00000356045.3:n.410-9T>C
ENST00000391923.1:c.410-9T>C	ENSP00000375790.1:n.410-9T>C
ENST00000452902.6:c.410-9T>C	ENSP00000392237.1:n.410-9T>C
ENST00000469326.1:n.1580T>C
NM_000716.3:c.410-9T>C	NP_000707.1:n.410-9T>C
NM_001017364.1:c.407-9T>C	NP_001017364.1:n.407-9T>C
NM_001017365.1:c.410-9T>C	NP_001017365.1:n.410-9T>C
NM_001017365.2:c.410-9T>C	NP_001017365.1:n.410-9T>C
NM_001017366.1:c.407-9T>C	NP_001017366.1:n.407-9T>C
NM_001017366.2:c.407-9T>C	NP_001017366.1:n.407-9T>C
NM_001017367.1:c.410-9T>C	NP_001017367.1:n.410-9T>C
XM_005273253.3:c.410-9T>C	XP_005273310.1:n.410-9T>C
XM_005273254.3:c.410-9T>C	XP_005273311.1:n.410-9T>C
XM_005273255.2:c.*945T>C	XP_005273312.1:n.*945T>C
XM_005273254.5:c.410-9T>C	XP_005273311.1:n.410-9T>C
XM_024449464.1:c.407-9T>C	XP_024305232.1:n.407-9T>C
NM_001017365.3:c.410-9T>C MANE Select	NP_001017365.1:n.410-9T>C
NM_001017366.3:c.407-9T>C	NP_001017366.1:n.407-9T>C