Canonical Allele Identifier: CA3335673

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1061699
• ClinVar RCV Id: RCV001371328 ; RCV002329393
• dbSNP Id: rs770469001
• ExAC: 5:86645100 G / A
• gnomAD v2: 5-86645100-G-A
• gnomAD v3: 5-87349283-G-A
• gnomAD v4: 5-87349283-G-A
• MyVariant Identifiers: chr5:g.86645100G>A (hg19) ; chr5:g.87349283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87349283G>A , CM000667.2:g.87349283G>A	GRCh38
NC_000005.9:g.86645100G>A , CM000667.1:g.86645100G>A	GRCh37
NC_000005.8:g.86680856G>A	NCBI36
NG_011650.1:g.85950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1172G>A (RASA1) MANE Select	ENSP00000274376.6:p.Arg391Gln
ENST00000645953.1:c.*91-30386C>T (CCNH)	ENSP00000494460.1:n.*91-30386C>T
ENST00000274376.10:c.1172G>A (RASA1)	ENSP00000274376.6:p.Arg391Gln
ENST00000456692.6:c.641G>A (RASA1)	ENSP00000411221.2:p.Arg214Gln
ENST00000506290.1:c.674G>A (RASA1)	ENSP00000420905.1:p.Arg225Gln
ENST00000509953.1:n.275G>A (RASA1)
ENST00000512763.5:c.671G>A (RASA1)	ENSP00000422008.1:p.Arg224Gln
ENST00000515800.6:c.1172G>A (RASA1)	ENSP00000423395.2:p.Arg391Gln
NM_002890.2:c.1172G>A (RASA1)	NP_002881.1:p.Arg391Gln
NM_022650.2:c.641G>A (RASA1)	NP_072179.1:p.Arg214Gln
XM_011543525.1:c.1172G>A (RASA1)	XP_011541827.1:p.Arg391Gln
XM_011543526.1:c.1172G>A (RASA1)	XP_011541828.1:p.Arg391Gln
XM_011543527.1:c.1172G>A (RASA1)	XP_011541829.1:p.Arg391Gln
NM_001364075.1:c.934-36488C>T (CCNH)	NP_001351004.1:n.934-36488C>T
NR_157068.1:n.1448-36488C>T (CCNH)
NR_157069.1:n.1041-36488C>T (CCNH)
NR_157070.1:n.1205-36488C>T (CCNH)
XM_011543525.2:c.1172G>A (RASA1)	XP_011541827.1:p.Arg391Gln
XM_011543527.3:c.1172G>A (RASA1)	XP_011541829.1:p.Arg391Gln
NM_001364075.2:c.934-36488C>T (CCNH)	NP_001351004.1:n.934-36488C>T
NM_002890.3:c.1172G>A (RASA1) MANE Select	NP_002881.1:p.Arg391Gln
NR_157068.2:n.1448-36488C>T (CCNH)
NR_157069.2:n.1041-36488C>T (CCNH)
NR_157070.2:n.1205-36488C>T (CCNH)
NM_022650.3:c.641G>A (RASA1)	NP_072179.1:p.Arg214Gln