Canonical Allele Identifier: CA409211941

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757594C>T (hg19) ; chr20:g.46128955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128955C>T , CM000682.2:g.46128955C>T	GRCh38
NC_000020.10:g.44757594C>T , CM000682.1:g.44757594C>T	GRCh37
NC_000020.9:g.44191001C>T	NCBI36
NG_007279.1:g.15689C>T , LRG_40:g.15689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.751C>T	ENSP00000512095.1:n.751C>T
ENST00000489304.6:c.832C>T	ENSP00000512096.1:n.832C>T
ENST00000695675.1:n.2625C>T
ENST00000372285.8:c.749C>T MANE Select	ENSP00000361359.3:p.Pro250Leu
ENST00000372276.7:c.*75C>T	ENSP00000361350.3:n.*75C>T
ENST00000372285.7:c.749C>T	ENSP00000361359.3:p.Pro250Leu
ENST00000466205.5:c.651C>T
ENST00000477696.5:n.722C>T
ENST00000489304.5:n.825C>T
ENST00000620709.4:c.*296C>T	ENSP00000484074.1:n.*296C>T
NM_001250.5:c.749C>T	NP_001241.1:p.Pro250Leu
NM_001302753.1:c.*75C>T	NP_001289682.1:n.*75C>T
NM_152854.3:c.*75C>T	NP_690593.1:n.*75C>T
NR_126502.1:n.842C>T
XM_005260617.2:c.761C>T	XP_005260674.1:p.Pro254Leu
XM_005260619.2:c.605C>T	XP_005260676.1:p.Pro202Leu
XR_936660.1:n.749C>T
NM_001322421.1:c.761C>T	NP_001309350.1:p.Pro254Leu
NM_001322422.1:c.593C>T	NP_001309351.1:p.Pro198Leu
NM_001362758.1:c.*75C>T	NP_001349687.1:n.*75C>T
NR_136327.1:n.745C>T
XM_005260619.3:c.605C>T	XP_005260676.1:p.Pro202Leu
XM_017028135.1:c.784C>T	XP_016883624.1:p.Gln262Ter
XM_017028136.1:c.682C>T	XP_016883625.1:p.Gln228Ter
NM_001250.6:c.749C>T MANE Select	NP_001241.1:p.Pro250Leu
NM_001302753.2:c.*75C>T	NP_001289682.1:n.*75C>T
NM_001322421.2:c.761C>T	NP_001309350.1:p.Pro254Leu
NM_001322422.2:c.593C>T	NP_001309351.1:p.Pro198Leu
NM_001362758.2:c.*75C>T	NP_001349687.1:n.*75C>T
NM_152854.4:c.*75C>T	NP_690593.1:n.*75C>T
NR_126502.2:n.782C>T
NR_136327.2:n.685C>T