Canonical Allele Identifier: CA409211500

Gene: CD40

Linked Data

• gnomAD v4: 20-46128888-C-T
• MyVariant Identifiers: chr20:g.44757527C>T (hg19) ; chr20:g.46128888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128888C>T , CM000682.2:g.46128888C>T	GRCh38
NC_000020.10:g.44757527C>T , CM000682.1:g.44757527C>T	GRCh37
NC_000020.9:g.44190934C>T	NCBI36
NG_007279.1:g.15622C>T , LRG_40:g.15622C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.684C>T	ENSP00000512095.1:n.684C>T
ENST00000489304.6:c.765C>T	ENSP00000512096.1:n.765C>T
ENST00000695675.1:n.2558C>T
ENST00000372285.8:c.682C>T MANE Select	ENSP00000361359.3:p.His228Tyr
ENST00000372276.7:c.*8C>T	ENSP00000361350.3:n.*8C>T
ENST00000372285.7:c.682C>T	ENSP00000361359.3:p.His228Tyr
ENST00000466205.5:c.584C>T
ENST00000477696.5:n.655C>T
ENST00000489304.5:n.758C>T
ENST00000620709.4:c.*229C>T	ENSP00000484074.1:n.*229C>T
NM_001250.5:c.682C>T	NP_001241.1:p.His228Tyr
NM_001302753.1:c.*8C>T	NP_001289682.1:n.*8C>T
NM_152854.3:c.*8C>T	NP_690593.1:n.*8C>T
NR_126502.1:n.775C>T
XM_005260617.2:c.694C>T	XP_005260674.1:p.His232Tyr
XM_005260619.2:c.538C>T	XP_005260676.1:p.His180Tyr
XR_936660.1:n.682C>T
NM_001322421.1:c.694C>T	NP_001309350.1:p.His232Tyr
NM_001322422.1:c.526C>T	NP_001309351.1:p.His176Tyr
NM_001362758.1:c.*8C>T	NP_001349687.1:n.*8C>T
NR_136327.1:n.678C>T
XM_005260619.3:c.538C>T	XP_005260676.1:p.His180Tyr
XM_017028135.1:c.717C>T	XP_016883624.1:p.Pro239=
XM_017028136.1:c.615C>T	XP_016883625.1:p.Pro205=
NM_001250.6:c.682C>T MANE Select	NP_001241.1:p.His228Tyr
NM_001302753.2:c.*8C>T	NP_001289682.1:n.*8C>T
NM_001322421.2:c.694C>T	NP_001309350.1:p.His232Tyr
NM_001322422.2:c.526C>T	NP_001309351.1:p.His176Tyr
NM_001362758.2:c.*8C>T	NP_001349687.1:n.*8C>T
NM_152854.4:c.*8C>T	NP_690593.1:n.*8C>T
NR_126502.2:n.715C>T
NR_136327.2:n.618C>T