Canonical Allele Identifier: CA401357295

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80099526-G-T
• MyVariant Identifiers: chr17:g.78073325G>T (hg19) ; chr17:g.80099526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099526G>T , CM000679.2:g.80099526G>T	GRCh38
NC_000017.10:g.78073325G>T , CM000679.1:g.78073325G>T	GRCh37
NC_000017.9:g.75687920G>T	NCBI36
NG_009822.1:g.2971G>T , LRG_673:g.2971G>T
NG_029761.1:g.67895G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.3181-1G>T MANE Select	ENSP00000380679.4:n.3181-1G>T
ENST00000397545.8:c.3181-1G>T	ENSP00000380679.4:n.3181-1G>T
ENST00000574799.5:n.2718-1G>T
NM_017950.3:c.3181-1G>T	NP_060420.2:n.3181-1G>T
XM_011524963.1:c.3091-1G>T	XP_011523265.1:n.3091-1G>T
XM_011524964.1:c.2002-1G>T	XP_011523266.1:n.2002-1G>T
XM_011524963.3:c.3091-1G>T	XP_011523265.1:n.3091-1G>T
XM_011524964.3:c.2002-1G>T	XP_011523266.1:n.2002-1G>T
XM_024450821.1:c.3091-1G>T	XP_024306589.1:n.3091-1G>T
XR_934495.2:n.3299-1G>T
NM_017950.4:c.3181-1G>T MANE Select	NP_060420.2:n.3181-1G>T