Canonical Allele Identifier: CA2580073667

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2413923
• ClinVar RCV Id: RCV003106256
• gnomAD v4: 5-87331344-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331344C>G , CM000667.2:g.87331344C>G	GRCh38
NC_000005.9:g.86627161C>G , CM000667.1:g.86627161C>G	GRCh37
NC_000005.8:g.86662917C>G	NCBI36
NG_011650.1:g.68011C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.540-4C>G (RASA1) MANE Select	ENSP00000274376.6:n.540-4C>G
ENST00000645953.1:c.*91-12447G>C (CCNH)	ENSP00000494460.1:n.*91-12447G>C
ENST00000274376.10:c.540-4C>G (RASA1)	ENSP00000274376.6:n.540-4C>G
ENST00000456692.6:c.9-4C>G (RASA1)	ENSP00000411221.2:n.9-4C>G
ENST00000506290.1:c.42-4C>G (RASA1)	ENSP00000420905.1:n.42-4C>G
ENST00000512763.5:c.39-4C>G (RASA1)	ENSP00000422008.1:n.39-4C>G
ENST00000515800.6:c.540-4C>G (RASA1)	ENSP00000423395.2:n.540-4C>G
NM_002890.2:c.540-4C>G (RASA1)	NP_002881.1:n.540-4C>G
NM_022650.2:c.9-4C>G (RASA1)	NP_072179.1:n.9-4C>G
XM_011543525.1:c.540-4C>G (RASA1)	XP_011541827.1:n.540-4C>G
XM_011543526.1:c.540-4C>G (RASA1)	XP_011541828.1:n.540-4C>G
XM_011543527.1:c.540-4C>G (RASA1)	XP_011541829.1:n.540-4C>G
NM_001364075.1:c.934-18549G>C (CCNH)	NP_001351004.1:n.934-18549G>C
NR_157068.1:n.1448-18549G>C (CCNH)
NR_157069.1:n.1041-18549G>C (CCNH)
NR_157070.1:n.1205-18549G>C (CCNH)
XM_011543525.2:c.540-4C>G (RASA1)	XP_011541827.1:n.540-4C>G
XM_011543527.3:c.540-4C>G (RASA1)	XP_011541829.1:n.540-4C>G
NM_001364075.2:c.934-18549G>C (CCNH)	NP_001351004.1:n.934-18549G>C
NM_002890.3:c.540-4C>G (RASA1) MANE Select	NP_002881.1:n.540-4C>G
NR_157068.2:n.1448-18549G>C (CCNH)
NR_157069.2:n.1041-18549G>C (CCNH)
NR_157070.2:n.1205-18549G>C (CCNH)
NM_022650.3:c.9-4C>G (RASA1)	NP_072179.1:n.9-4C>G