Canonical Allele Identifier: CA414756523

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 624445
• ClinVar RCV Id: RCV000762673 ; RCV003512077
• dbSNP Id: rs1569377865
• MyVariant Identifiers: chrX:g.135741474T>C (hg19) ; chrX:g.136659315T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659315T>C , CM000685.2:g.136659315T>C	GRCh38
NC_000023.10:g.135741474T>C , CM000685.1:g.135741474T>C	GRCh37
NC_000023.9:g.135569140T>C	NCBI36
NG_007280.1:g.16139T>C , LRG_141:g.16139T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*304T>C	ENSP00000512122.1:n.*304T>C
ENST00000695725.1:c.*241T>C	ENSP00000512123.1:n.*241T>C
ENST00000695726.1:n.2654T>C
ENST00000695729.1:n.3489T>C
ENST00000370629.7:c.686T>C MANE Select	ENSP00000359663.2:p.Phe229Ser
ENST00000370628.2:c.623T>C	ENSP00000359662.2:p.Phe208Ser
ENST00000370629.6:c.686T>C	ENSP00000359663.2:p.Phe229Ser
NM_000074.2:c.686T>C , LRG_141t1:c.686T>C	NP_000065.1:p.Phe229Ser
NM_000074.3:c.686T>C MANE Select	NP_000065.1:p.Phe229Ser