Canonical Allele Identifier: CA2277807991
Gene: CCDC40 HGNC NCBI

Linked Data

dbSNP Id: rs2038888066
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80099845T>C , CM000679.2:g.80099845T>C GRCh38
NC_000017.10:g.78073644T>C , CM000679.1:g.78073644T>C GRCh37
NC_000017.9:g.75688239T>C NCBI36
NG_009822.1:g.3290T>C , LRG_673:g.3290T>C
NG_029761.1:g.68214T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000397545.9:c.*70T>C MANE Select ENSP00000380679.4:n.*70T>C
ENST00000397545.8:c.*70T>C ENSP00000380679.4:n.*70T>C
ENST00000574799.5:n.3036T>C
NM_017950.3:c.*70T>C NP_060420.2:n.*70T>C
XM_011524963.1:c.*70T>C XP_011523265.1:n.*70T>C
XM_011524964.1:c.*70T>C XP_011523266.1:n.*70T>C
XM_011524963.3:c.*70T>C XP_011523265.1:n.*70T>C
XM_011524964.3:c.*70T>C XP_011523266.1:n.*70T>C
XM_024450821.1:c.*70T>C XP_024306589.1:n.*70T>C
XR_934495.2:n.3617T>C
NM_017950.4:c.*70T>C MANE Select NP_060420.2:n.*70T>C
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