Canonical Allele Identifier: CA560881177

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2146413
• ClinVar RCV Id: RCV003074551
• dbSNP Id: rs1195674669
• gnomAD v2: 5-86649063-C-G
• gnomAD v3: 5-87353246-C-G
• gnomAD v4: 5-87353246-C-G
• MyVariant Identifiers: chr5:g.86649063C>G (hg19) ; chr5:g.87353246C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87353246C>G , CM000667.2:g.87353246C>G	GRCh38
NC_000005.9:g.86649063C>G , CM000667.1:g.86649063C>G	GRCh37
NC_000005.8:g.86684819C>G	NCBI36
NG_011650.1:g.89913C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1332+11C>G (RASA1) MANE Select	ENSP00000274376.6:n.1332+11C>G
ENST00000645953.1:c.*91-34349G>C (CCNH)	ENSP00000494460.1:n.*91-34349G>C
ENST00000274376.10:c.1332+11C>G (RASA1)	ENSP00000274376.6:n.1332+11C>G
ENST00000456692.6:c.801+11C>G (RASA1)	ENSP00000411221.2:n.801+11C>G
ENST00000506290.1:c.834+11C>G (RASA1)	ENSP00000420905.1:n.834+11C>G
ENST00000509953.1:n.435+11C>G (RASA1)
ENST00000512763.5:c.831+11C>G (RASA1)	ENSP00000422008.1:n.831+11C>G
ENST00000515800.6:c.1332+11C>G (RASA1)	ENSP00000423395.2:n.1332+11C>G
NM_002890.2:c.1332+11C>G (RASA1)	NP_002881.1:n.1332+11C>G
NM_022650.2:c.801+11C>G (RASA1)	NP_072179.1:n.801+11C>G
XM_011543525.1:c.1332+11C>G (RASA1)	XP_011541827.1:n.1332+11C>G
XM_011543526.1:c.1332+11C>G (RASA1)	XP_011541828.1:n.1332+11C>G
XM_011543527.1:c.1332+11C>G (RASA1)	XP_011541829.1:n.1332+11C>G
NM_001364075.1:c.934-40451G>C (CCNH)	NP_001351004.1:n.934-40451G>C
NR_157068.1:n.1447+39524G>C (CCNH)
NR_157069.1:n.1040+39524G>C (CCNH)
NR_157070.1:n.1204+39524G>C (CCNH)
XM_011543525.2:c.1332+11C>G (RASA1)	XP_011541827.1:n.1332+11C>G
XM_011543527.3:c.1332+11C>G (RASA1)	XP_011541829.1:n.1332+11C>G
NM_001364075.2:c.934-40451G>C (CCNH)	NP_001351004.1:n.934-40451G>C
NM_002890.3:c.1332+11C>G (RASA1) MANE Select	NP_002881.1:n.1332+11C>G
NR_157068.2:n.1447+39524G>C (CCNH)
NR_157069.2:n.1040+39524G>C (CCNH)
NR_157070.2:n.1204+39524G>C (CCNH)
NM_022650.3:c.801+11C>G (RASA1)	NP_072179.1:n.801+11C>G