Canonical Allele Identifier: CA510653924

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44750882G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122243G>C , CM000682.2:g.46122243G>C	GRCh38
NC_000020.10:g.44750882G>C , CM000682.1:g.44750882G>C	GRCh37
NC_000020.9:g.44184289G>C	NCBI36
NG_007279.1:g.8977G>C , LRG_40:g.8977G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.237G>C	ENSP00000512095.1:n.237G>C
ENST00000489304.6:c.141G>C	ENSP00000512096.1:p.Leu47=
ENST00000695669.1:n.214G>C
ENST00000695670.1:n.121G>C
ENST00000695671.1:c.141G>C	ENSP00000512093.1:p.Leu47=
ENST00000695672.1:n.66G>C
ENST00000695673.1:n.6G>C
ENST00000372285.8:c.141G>C MANE Select	ENSP00000361359.3:p.Leu47=
ENST00000372276.7:c.141G>C	ENSP00000361350.3:p.Leu47=
ENST00000372285.7:c.141G>C	ENSP00000361359.3:p.Leu47=
ENST00000466205.5:c.137G>C
ENST00000477696.5:n.208G>C
ENST00000489304.5:n.134G>C
ENST00000620709.4:c.141G>C	ENSP00000484074.1:p.Leu47=
NM_001250.5:c.141G>C	NP_001241.1:p.Leu47=
NM_001302753.1:c.141G>C	NP_001289682.1:p.Leu47=
NM_152854.3:c.141G>C	NP_690593.1:p.Leu47=
NR_126502.1:n.231G>C
XM_005260617.2:c.141G>C	XP_005260674.1:p.Leu47=
XM_005260619.2:c.141G>C	XP_005260676.1:p.Leu47=
XM_011529109.1:c.141G>C	XP_011527411.1:p.Leu47=
XR_936660.1:n.235G>C
NM_001322421.1:c.141G>C	NP_001309350.1:p.Leu47=
NM_001322422.1:c.141G>C	NP_001309351.1:p.Leu47=
NM_001362758.1:c.141G>C	NP_001349687.1:p.Leu47=
NR_136327.1:n.231G>C
XM_005260619.3:c.141G>C	XP_005260676.1:p.Leu47=
XM_011529109.2:c.141G>C	XP_011527411.1:p.Leu47=
XM_017028135.1:c.141G>C	XP_016883624.1:p.Leu47=
XM_017028136.1:c.141G>C	XP_016883625.1:p.Leu47=
NM_001250.6:c.141G>C MANE Select	NP_001241.1:p.Leu47=
NM_001302753.2:c.141G>C	NP_001289682.1:p.Leu47=
NM_001322421.2:c.141G>C	NP_001309350.1:p.Leu47=
NM_001322422.2:c.141G>C	NP_001309351.1:p.Leu47=
NM_001362758.2:c.141G>C	NP_001349687.1:p.Leu47=
NM_152854.4:c.141G>C	NP_690593.1:p.Leu47=
NR_126502.2:n.171G>C
NR_136327.2:n.171G>C