Canonical Allele Identifier: CA510657878

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757661A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129022A>C , CM000682.2:g.46129022A>C	GRCh38
NC_000020.10:g.44757661A>C , CM000682.1:g.44757661A>C	GRCh37
NC_000020.9:g.44191068A>C	NCBI36
NG_007279.1:g.15756A>C , LRG_40:g.15756A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.899A>C	ENSP00000512096.1:n.899A>C
ENST00000695675.1:n.2692A>C
ENST00000372285.8:c.816A>C MANE Select	ENSP00000361359.3:p.Ser272=
ENST00000372276.7:c.*142A>C	ENSP00000361350.3:n.*142A>C
ENST00000372285.7:c.816A>C	ENSP00000361359.3:p.Ser272=
ENST00000466205.5:c.718A>C
ENST00000489304.5:n.892A>C
ENST00000620709.4:c.*363A>C	ENSP00000484074.1:n.*363A>C
NM_001250.5:c.816A>C	NP_001241.1:p.Ser272=
NM_001302753.1:c.*142A>C	NP_001289682.1:n.*142A>C
NM_152854.3:c.*142A>C	NP_690593.1:n.*142A>C
NR_126502.1:n.909A>C
XM_005260617.2:c.828A>C	XP_005260674.1:p.Ser276=
XM_005260619.2:c.672A>C	XP_005260676.1:p.Ser224=
XR_936660.1:n.816A>C
NM_001322421.1:c.828A>C	NP_001309350.1:p.Ser276=
NM_001322422.1:c.660A>C	NP_001309351.1:p.Ser220=
NM_001362758.1:c.*142A>C	NP_001349687.1:n.*142A>C
NR_136327.1:n.812A>C
XM_005260619.3:c.672A>C	XP_005260676.1:p.Ser224=
XM_017028135.1:c.851A>C	XP_016883624.1:p.Gln284Pro
XM_017028136.1:c.749A>C	XP_016883625.1:p.Gln250Pro
NM_001250.6:c.816A>C MANE Select	NP_001241.1:p.Ser272=
NM_001302753.2:c.*142A>C	NP_001289682.1:n.*142A>C
NM_001322421.2:c.828A>C	NP_001309350.1:p.Ser276=
NM_001322422.2:c.660A>C	NP_001309351.1:p.Ser220=
NM_001362758.2:c.*142A>C	NP_001349687.1:n.*142A>C
NM_152854.4:c.*142A>C	NP_690593.1:n.*142A>C
NR_126502.2:n.849A>C
NR_136327.2:n.752A>C