Canonical Allele Identifier: CA9888533

Gene: CD40

Linked Data

• dbSNP Id: rs759793763
• ExAC: 20:44756840 T / C
• gnomAD v2: 20-44756840-T-C
• gnomAD v4: 20-46128201-T-C
• MyVariant Identifiers: chr20:g.44756840T>C (hg19) ; chr20:g.46128201T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128201T>C , CM000682.2:g.46128201T>C	GRCh38
NC_000020.10:g.44756840T>C , CM000682.1:g.44756840T>C	GRCh37
NC_000020.9:g.44190247T>C	NCBI36
NG_007279.1:g.14935T>C , LRG_40:g.14935T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.625T>C	ENSP00000512095.1:n.625T>C
ENST00000489304.6:c.706T>C	ENSP00000512096.1:n.706T>C
ENST00000695670.1:n.592T>C
ENST00000695671.1:c.663T>C	ENSP00000512093.1:p.His221=
ENST00000695674.1:n.1102T>C
ENST00000695675.1:n.2499T>C
ENST00000372285.8:c.623T>C MANE Select	ENSP00000361359.3:p.Ile208Thr
ENST00000372276.7:c.561T>C	ENSP00000361350.3:p.His187=
ENST00000372285.7:c.623T>C	ENSP00000361359.3:p.Ile208Thr
ENST00000466205.5:c.525T>C
ENST00000477696.5:n.596T>C
ENST00000489304.5:n.699T>C
ENST00000620709.4:c.*170T>C	ENSP00000484074.1:n.*170T>C
NM_001250.5:c.623T>C	NP_001241.1:p.Ile208Thr
NM_001302753.1:c.663T>C	NP_001289682.1:p.His221=
NM_152854.3:c.561T>C	NP_690593.1:p.His187=
NR_126502.1:n.716T>C
XM_005260617.2:c.623T>C	XP_005260674.1:p.Ile208Thr
XM_005260619.2:c.467T>C	XP_005260676.1:p.Ile156Thr
XR_936660.1:n.623T>C
NM_001322421.1:c.623T>C	NP_001309350.1:p.Ile208Thr
NM_001322422.1:c.467T>C	NP_001309351.1:p.Ile156Thr
NM_001362758.1:c.623T>C	NP_001349687.1:p.Ile208Thr
NR_136327.1:n.619T>C
XM_005260619.3:c.467T>C	XP_005260676.1:p.Ile156Thr
XM_017028135.1:c.663T>C	XP_016883624.1:p.His221=
XM_017028136.1:c.561T>C	XP_016883625.1:p.His187=
NM_001250.6:c.623T>C MANE Select	NP_001241.1:p.Ile208Thr
NM_001302753.2:c.663T>C	NP_001289682.1:p.His221=
NM_001322421.2:c.623T>C	NP_001309350.1:p.Ile208Thr
NM_001322422.2:c.467T>C	NP_001309351.1:p.Ile156Thr
NM_001362758.2:c.623T>C	NP_001349687.1:p.Ile208Thr
NM_152854.4:c.561T>C	NP_690593.1:p.His187=
NR_126502.2:n.656T>C
NR_136327.2:n.559T>C