Canonical Allele Identifier: CA414755964
Community Standard Title: NM_000074.3(CD40LG):c.589T>G (p.Ser197Ala)
Gene: CD40LG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659218T>G , CM000685.2:g.136659218T>G GRCh38
NC_000023.10:g.135741377T>G , CM000685.1:g.135741377T>G GRCh37
NC_000023.9:g.135569043T>G NCBI36
NG_007280.1:g.16042T>G , LRG_141:g.16042T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000074.3:c.589T>G MANE Select NP_000065.1:p.Ser197Ala
ENST00000370629.7:c.589T>G MANE Select ENSP00000359663.2:p.Ser197Ala
NM_000074.2:c.589T>G , LRG_141t1:c.589T>G NP_000065.1:p.Ser197Ala
ENST00000370628.2:c.526T>G ENSP00000359662.2:p.Ser176Ala
ENST00000370629.6:c.589T>G ENSP00000359663.2:p.Ser197Ala
ENST00000695724.1:c.*207T>G ENSP00000512122.1:n.*207T>G
ENST00000695725.1:c.*144T>G ENSP00000512123.1:n.*144T>G
ENST00000695726.1:n.2557T>G
ENST00000695729.1:n.3392T>G
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