Canonical Allele Identifier: CA6720248

Gene: CRADD

Linked Data

• ClinVar Variation Id: 372191
• ClinVar RCV Id: RCV000412611 ; RCV001261380
• dbSNP Id: rs141179774
• ExAC: 12:94243956 G / A
• gnomAD v2: 12-94243956-G-A
• gnomAD v3: 12-93850180-G-A
• gnomAD v4: 12-93850180-G-A
• COSMIC: COSM3968496
• MyVariant Identifiers: chr12:g.94243956G>A (hg19) ; chr12:g.93850180G>A (hg38)
• PubMed: PMID:27773430

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93850180G>A , CM000674.2:g.93850180G>A	GRCh38
NC_000012.11:g.94243956G>A , CM000674.1:g.94243956G>A	GRCh37
NC_000012.10:g.92768087G>A	NCBI36
NG_032159.1:g.177806G>A
NG_032159.2:g.177806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332896.8:c.509G>A MANE Select	ENSP00000327647.3:p.Arg170His
ENST00000332896.7:c.509G>A	ENSP00000327647.3:p.Arg170His
ENST00000542893.2:c.509G>A	ENSP00000439068.2:p.Arg170His
ENST00000548330.1:n.894G>A
ENST00000548483.5:c.299-43870G>A	ENSP00000448685.1:n.299-43870G>A
ENST00000550030.1:n.309G>A
ENST00000551065.5:c.299-9139G>A	ENSP00000448425.1:n.299-9139G>A
ENST00000609189.1:n.285G>A
NM_003805.3:c.509G>A	NP_003796.1:p.Arg170His
XM_005269211.3:c.299-43870G>A	XP_005269268.1:n.299-43870G>A
NM_001320099.1:c.509G>A	NP_001307028.1:p.Arg170His
NM_001320100.1:c.299-43870G>A	NP_001307029.1:n.299-43870G>A
NM_003805.4:c.509G>A	NP_003796.1:p.Arg170His
NR_135147.1:n.407-9139G>A
XM_017020144.1:c.299-9139G>A	XP_016875633.1:n.299-9139G>A
XR_001748910.1:n.430-9139G>A
NM_003805.5:c.509G>A MANE Select	NP_003796.1:p.Arg170His
NM_001320099.2:c.509G>A	NP_001307028.1:p.Arg170His
NM_001320100.2:c.299-43870G>A	NP_001307029.1:n.299-43870G>A
NR_135147.2:n.403-9139G>A