Canonical Allele Identifier: CA409209458

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44756847G>C (hg19) ; chr20:g.46128208G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128208G>C , CM000682.2:g.46128208G>C	GRCh38
NC_000020.10:g.44756847G>C , CM000682.1:g.44756847G>C	GRCh37
NC_000020.9:g.44190254G>C	NCBI36
NG_007279.1:g.14942G>C , LRG_40:g.14942G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.632G>C	ENSP00000512095.1:n.632G>C
ENST00000489304.6:c.713G>C	ENSP00000512096.1:n.713G>C
ENST00000695670.1:n.599G>C
ENST00000695671.1:c.670G>C	ENSP00000512093.1:p.Gly224Arg
ENST00000695674.1:n.1109G>C
ENST00000695675.1:n.2506G>C
ENST00000372285.8:c.630G>C MANE Select	ENSP00000361359.3:p.Leu210Phe
ENST00000372276.7:c.568G>C	ENSP00000361350.3:p.Gly190Arg
ENST00000372285.7:c.630G>C	ENSP00000361359.3:p.Leu210Phe
ENST00000466205.5:c.532G>C
ENST00000477696.5:n.603G>C
ENST00000489304.5:n.706G>C
ENST00000620709.4:c.*177G>C	ENSP00000484074.1:n.*177G>C
NM_001250.5:c.630G>C	NP_001241.1:p.Leu210Phe
NM_001302753.1:c.670G>C	NP_001289682.1:p.Gly224Arg
NM_152854.3:c.568G>C	NP_690593.1:p.Gly190Arg
NR_126502.1:n.723G>C
XM_005260617.2:c.630G>C	XP_005260674.1:p.Leu210Phe
XM_005260619.2:c.474G>C	XP_005260676.1:p.Leu158Phe
XR_936660.1:n.630G>C
NM_001322421.1:c.630G>C	NP_001309350.1:p.Leu210Phe
NM_001322422.1:c.474G>C	NP_001309351.1:p.Leu158Phe
NM_001362758.1:c.630G>C	NP_001349687.1:p.Leu210Phe
NR_136327.1:n.626G>C
XM_005260619.3:c.474G>C	XP_005260676.1:p.Leu158Phe
XM_017028135.1:c.670G>C	XP_016883624.1:p.Gly224Arg
XM_017028136.1:c.568G>C	XP_016883625.1:p.Gly190Arg
NM_001250.6:c.630G>C MANE Select	NP_001241.1:p.Leu210Phe
NM_001302753.2:c.670G>C	NP_001289682.1:p.Gly224Arg
NM_001322421.2:c.630G>C	NP_001309350.1:p.Leu210Phe
NM_001322422.2:c.474G>C	NP_001309351.1:p.Leu158Phe
NM_001362758.2:c.630G>C	NP_001349687.1:p.Leu210Phe
NM_152854.4:c.568G>C	NP_690593.1:p.Gly190Arg
NR_126502.2:n.663G>C
NR_136327.2:n.566G>C