Canonical Allele Identifier: CA409211555

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757535G>C (hg19) ; chr20:g.46128896G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128896G>C , CM000682.2:g.46128896G>C	GRCh38
NC_000020.10:g.44757535G>C , CM000682.1:g.44757535G>C	GRCh37
NC_000020.9:g.44190942G>C	NCBI36
NG_007279.1:g.15630G>C , LRG_40:g.15630G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.692G>C	ENSP00000512095.1:n.692G>C
ENST00000489304.6:c.773G>C	ENSP00000512096.1:n.773G>C
ENST00000695675.1:n.2566G>C
ENST00000372285.8:c.690G>C MANE Select	ENSP00000361359.3:p.Lys230Asn
ENST00000372276.7:c.*16G>C	ENSP00000361350.3:n.*16G>C
ENST00000372285.7:c.690G>C	ENSP00000361359.3:p.Lys230Asn
ENST00000466205.5:c.592G>C
ENST00000477696.5:n.663G>C
ENST00000489304.5:n.766G>C
ENST00000620709.4:c.*237G>C	ENSP00000484074.1:n.*237G>C
NM_001250.5:c.690G>C	NP_001241.1:p.Lys230Asn
NM_001302753.1:c.*16G>C	NP_001289682.1:n.*16G>C
NM_152854.3:c.*16G>C	NP_690593.1:n.*16G>C
NR_126502.1:n.783G>C
XM_005260617.2:c.702G>C	XP_005260674.1:p.Lys234Asn
XM_005260619.2:c.546G>C	XP_005260676.1:p.Lys182Asn
XR_936660.1:n.690G>C
NM_001322421.1:c.702G>C	NP_001309350.1:p.Lys234Asn
NM_001322422.1:c.534G>C	NP_001309351.1:p.Lys178Asn
NM_001362758.1:c.*16G>C	NP_001349687.1:n.*16G>C
NR_136327.1:n.686G>C
XM_005260619.3:c.546G>C	XP_005260676.1:p.Lys182Asn
XM_017028135.1:c.725G>C	XP_016883624.1:p.Ser242Thr
XM_017028136.1:c.623G>C	XP_016883625.1:p.Ser208Thr
NM_001250.6:c.690G>C MANE Select	NP_001241.1:p.Lys230Asn
NM_001302753.2:c.*16G>C	NP_001289682.1:n.*16G>C
NM_001322421.2:c.702G>C	NP_001309350.1:p.Lys234Asn
NM_001322422.2:c.534G>C	NP_001309351.1:p.Lys178Asn
NM_001362758.2:c.*16G>C	NP_001349687.1:n.*16G>C
NM_152854.4:c.*16G>C	NP_690593.1:n.*16G>C
NR_126502.2:n.723G>C
NR_136327.2:n.626G>C