Canonical Allele Identifier: CA409211489

Gene: CD40

Linked Data

• dbSNP Id: rs2085495630
• gnomAD v4: 20-46128886-C-T
• MyVariant Identifiers: chr20:g.44757525C>T (hg19) ; chr20:g.46128886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128886C>T , CM000682.2:g.46128886C>T	GRCh38
NC_000020.10:g.44757525C>T , CM000682.1:g.44757525C>T	GRCh37
NC_000020.9:g.44190932C>T	NCBI36
NG_007279.1:g.15620C>T , LRG_40:g.15620C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.682C>T	ENSP00000512095.1:n.682C>T
ENST00000489304.6:c.763C>T	ENSP00000512096.1:n.763C>T
ENST00000695675.1:n.2556C>T
ENST00000372285.8:c.680C>T MANE Select	ENSP00000361359.3:p.Pro227Leu
ENST00000372276.7:c.*6C>T	ENSP00000361350.3:n.*6C>T
ENST00000372285.7:c.680C>T	ENSP00000361359.3:p.Pro227Leu
ENST00000466205.5:c.582C>T
ENST00000477696.5:n.653C>T
ENST00000489304.5:n.756C>T
ENST00000620709.4:c.*227C>T	ENSP00000484074.1:n.*227C>T
NM_001250.5:c.680C>T	NP_001241.1:p.Pro227Leu
NM_001302753.1:c.*6C>T	NP_001289682.1:n.*6C>T
NM_152854.3:c.*6C>T	NP_690593.1:n.*6C>T
NR_126502.1:n.773C>T
XM_005260617.2:c.692C>T	XP_005260674.1:p.Pro231Leu
XM_005260619.2:c.536C>T	XP_005260676.1:p.Pro179Leu
XR_936660.1:n.680C>T
NM_001322421.1:c.692C>T	NP_001309350.1:p.Pro231Leu
NM_001322422.1:c.524C>T	NP_001309351.1:p.Pro175Leu
NM_001362758.1:c.*6C>T	NP_001349687.1:n.*6C>T
NR_136327.1:n.676C>T
XM_005260619.3:c.536C>T	XP_005260676.1:p.Pro179Leu
XM_017028135.1:c.715C>T	XP_016883624.1:p.Pro239Ser
XM_017028136.1:c.613C>T	XP_016883625.1:p.Pro205Ser
NM_001250.6:c.680C>T MANE Select	NP_001241.1:p.Pro227Leu
NM_001302753.2:c.*6C>T	NP_001289682.1:n.*6C>T
NM_001322421.2:c.692C>T	NP_001309350.1:p.Pro231Leu
NM_001322422.2:c.524C>T	NP_001309351.1:p.Pro175Leu
NM_001362758.2:c.*6C>T	NP_001349687.1:n.*6C>T
NM_152854.4:c.*6C>T	NP_690593.1:n.*6C>T
NR_126502.2:n.713C>T
NR_136327.2:n.616C>T