Canonical Allele Identifier: CA510657831

Gene: CD40

Linked Data

• gnomAD v4: 20-46128944-C-T
• MyVariant Identifiers: chr20:g.44757583C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128944C>T , CM000682.2:g.46128944C>T	GRCh38
NC_000020.10:g.44757583C>T , CM000682.1:g.44757583C>T	GRCh37
NC_000020.9:g.44190990C>T	NCBI36
NG_007279.1:g.15678C>T , LRG_40:g.15678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.740C>T	ENSP00000512095.1:n.740C>T
ENST00000489304.6:c.821C>T	ENSP00000512096.1:n.821C>T
ENST00000695675.1:n.2614C>T
ENST00000372285.8:c.738C>T MANE Select	ENSP00000361359.3:p.Asn246=
ENST00000372276.7:c.*64C>T	ENSP00000361350.3:n.*64C>T
ENST00000372285.7:c.738C>T	ENSP00000361359.3:p.Asn246=
ENST00000466205.5:c.640C>T
ENST00000477696.5:n.711C>T
ENST00000489304.5:n.814C>T
ENST00000620709.4:c.*285C>T	ENSP00000484074.1:n.*285C>T
NM_001250.5:c.738C>T	NP_001241.1:p.Asn246=
NM_001302753.1:c.*64C>T	NP_001289682.1:n.*64C>T
NM_152854.3:c.*64C>T	NP_690593.1:n.*64C>T
NR_126502.1:n.831C>T
XM_005260617.2:c.750C>T	XP_005260674.1:p.Asn250=
XM_005260619.2:c.594C>T	XP_005260676.1:p.Asn198=
XR_936660.1:n.738C>T
NM_001322421.1:c.750C>T	NP_001309350.1:p.Asn250=
NM_001322422.1:c.582C>T	NP_001309351.1:p.Asn194=
NM_001362758.1:c.*64C>T	NP_001349687.1:n.*64C>T
NR_136327.1:n.734C>T
XM_005260619.3:c.594C>T	XP_005260676.1:p.Asn198=
XM_017028135.1:c.773C>T	XP_016883624.1:p.Thr258Ile
XM_017028136.1:c.671C>T	XP_016883625.1:p.Thr224Ile
NM_001250.6:c.738C>T MANE Select	NP_001241.1:p.Asn246=
NM_001302753.2:c.*64C>T	NP_001289682.1:n.*64C>T
NM_001322421.2:c.750C>T	NP_001309350.1:p.Asn250=
NM_001322422.2:c.582C>T	NP_001309351.1:p.Asn194=
NM_001362758.2:c.*64C>T	NP_001349687.1:n.*64C>T
NM_152854.4:c.*64C>T	NP_690593.1:n.*64C>T
NR_126502.2:n.771C>T
NR_136327.2:n.674C>T