Canonical Allele Identifier: CA8448616

Gene: CCDC144NL CCDC144NL-AS1

Linked Data

• ClinVar Variation Id: 2647571
• ClinVar RCV Id: RCV003413175
• dbSNP Id: rs150947349
• ExAC: 17:20799087 C / T
• gnomAD v2: 17-20799087-C-T
• gnomAD v3: 17-20895774-C-T
• gnomAD v4: 17-20895774-C-T
• MyVariant Identifiers: chr17:g.20799087C>T (hg19) ; chr17:g.20895774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.20895774C>T , CM000679.2:g.20895774C>T	GRCh38
NC_000017.10:g.20799087C>T , CM000679.1:g.20799087C>T	GRCh37
NC_000017.9:g.20739679C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647562.3:n.247G>A (CCDC144NL)
ENST00000647562.2:n.384G>A (CCDC144NL)
ENST00000647562.1:n.247G>A (CCDC144NL)
ENST00000648089.1:n.180G>A (CCDC144NL)
ENST00000327925.5:c.247G>A (CCDC144NL)	ENSP00000328054.5:p.Glu83Lys
NM_001004306.2:c.247G>A (CCDC144NL)	NP_001004306.1:p.Glu83Lys
NR_104185.1:n.456+3342C>T (CCDC144NL-AS1)
XM_011523818.1:c.247G>A (CCDC144NL)	XP_011522120.1:p.Glu83Lys
XM_011523819.1:c.247G>A (CCDC144NL)	XP_011522121.1:p.Glu83Lys
XM_011523820.1:c.247G>A (CCDC144NL)	XP_011522122.1:p.Glu83Lys
XM_011523818.3:c.247G>A (CCDC144NL)	XP_011522120.1:p.Glu83Lys
XM_011523819.3:c.247G>A (CCDC144NL)	XP_011522121.1:p.Glu83Lys
NR_104185.2:n.362+3342C>T (CCDC144NL-AS1)
NR_160710.1:n.620+3342C>T (CCDC144NL-AS1)
NR_164128.1:n.390G>A (CCDC144NL)