Canonical Allele Identifier: CA3336179

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2073595
• ClinVar RCV Id: RCV002972002
• dbSNP Id: rs773025020
• ExAC: 5:86685250 C / T
• gnomAD v2: 5-86685250-C-T
• gnomAD v3: 5-87389433-C-T
• gnomAD v4: 5-87389433-C-T
• COSMIC: COSM3140107 ; COSM3140108
• MyVariant Identifiers: chr5:g.86685250C>T (hg19) ; chr5:g.87389433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389433C>T , CM000667.2:g.87389433C>T	GRCh38
NC_000005.9:g.86685250C>T , CM000667.1:g.86685250C>T	GRCh37
NC_000005.8:g.86721006C>T	NCBI36
NG_011650.1:g.126100C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2966C>T (RASA1) MANE Select	ENSP00000274376.6:p.Thr989Met
ENST00000645953.1:c.*90+3337G>A (CCNH)	ENSP00000494460.1:n.*90+3337G>A
ENST00000646883.1:c.254+3337G>A (CCNH)
ENST00000274376.10:c.2966C>T (RASA1)	ENSP00000274376.6:p.Thr989Met
ENST00000456692.6:c.2435C>T (RASA1)	ENSP00000411221.2:p.Thr812Met
ENST00000506290.1:c.2468C>T (RASA1)	ENSP00000420905.1:p.Thr823Met
ENST00000512763.5:c.2465C>T (RASA1)	ENSP00000422008.1:p.Thr822Met
ENST00000515800.6:c.*1581C>T (RASA1)	ENSP00000423395.2:n.*1581C>T
NM_002890.2:c.2966C>T (RASA1)	NP_002881.1:p.Thr989Met
NM_022650.2:c.2435C>T (RASA1)	NP_072179.1:p.Thr812Met
XM_011543525.1:c.2879C>T (RASA1)	XP_011541827.1:p.Thr960Met
NM_001364075.1:c.933+5611G>A (CCNH)	NP_001351004.1:n.933+5611G>A
NR_157068.1:n.1447+3337G>A (CCNH)
NR_157069.1:n.1040+3337G>A (CCNH)
NR_157070.1:n.1204+3337G>A (CCNH)
XM_011543525.2:c.2879C>T (RASA1)	XP_011541827.1:p.Thr960Met
NM_001364075.2:c.933+5611G>A (CCNH)	NP_001351004.1:n.933+5611G>A
NM_002890.3:c.2966C>T (RASA1) MANE Select	NP_002881.1:p.Thr989Met
NR_157068.2:n.1447+3337G>A (CCNH)
NR_157069.2:n.1040+3337G>A (CCNH)
NR_157070.2:n.1204+3337G>A (CCNH)
NM_022650.3:c.2435C>T (RASA1)	NP_072179.1:p.Thr812Met