Canonical Allele Identifier: CA401357323

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78073338A>C (hg19) ; chr17:g.80099539A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099539A>C , CM000679.2:g.80099539A>C	GRCh38
NC_000017.10:g.78073338A>C , CM000679.1:g.78073338A>C	GRCh37
NC_000017.9:g.75687933A>C	NCBI36
NG_009822.1:g.2984A>C , LRG_673:g.2984A>C
NG_029761.1:g.67908A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.3193A>C MANE Select	ENSP00000380679.4:p.Ile1065Leu
ENST00000397545.8:c.3193A>C	ENSP00000380679.4:p.Ile1065Leu
ENST00000574799.5:n.2730A>C
NM_017950.3:c.3193A>C	NP_060420.2:p.Ile1065Leu
XM_011524963.1:c.3103A>C	XP_011523265.1:p.Ile1035Leu
XM_011524964.1:c.2014A>C	XP_011523266.1:p.Ile672Leu
XM_011524963.3:c.3103A>C	XP_011523265.1:p.Ile1035Leu
XM_011524964.3:c.2014A>C	XP_011523266.1:p.Ile672Leu
XM_024450821.1:c.3103A>C	XP_024306589.1:p.Ile1035Leu
XR_934495.2:n.3311A>C
NM_017950.4:c.3193A>C MANE Select	NP_060420.2:p.Ile1065Leu