Canonical Allele Identifier: CA294882768

Gene: CCDC40

Linked Data

• dbSNP Id: rs1004775554
• gnomAD v4: 17-80099852-C-T
• MyVariant Identifiers: chr17:g.78073651C>T (hg19) ; chr17:g.80099852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099852C>T , CM000679.2:g.80099852C>T	GRCh38
NC_000017.10:g.78073651C>T , CM000679.1:g.78073651C>T	GRCh37
NC_000017.9:g.75688246C>T	NCBI36
NG_009822.1:g.3297C>T , LRG_673:g.3297C>T
NG_029761.1:g.68221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.*77C>T MANE Select	ENSP00000380679.4:n.*77C>T
ENST00000397545.8:c.*77C>T	ENSP00000380679.4:n.*77C>T
ENST00000574799.5:n.3043C>T
NM_017950.3:c.*77C>T	NP_060420.2:n.*77C>T
XM_011524963.1:c.*77C>T	XP_011523265.1:n.*77C>T
XM_011524964.1:c.*77C>T	XP_011523266.1:n.*77C>T
XM_011524963.3:c.*77C>T	XP_011523265.1:n.*77C>T
XM_011524964.3:c.*77C>T	XP_011523266.1:n.*77C>T
XM_024450821.1:c.*77C>T	XP_024306589.1:n.*77C>T
XR_934495.2:n.3624C>T
NM_017950.4:c.*77C>T MANE Select	NP_060420.2:n.*77C>T