Canonical Allele Identifier: CA360363901

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs137853214
• gnomAD v3: 5-87349304-G-A
• gnomAD v4: 5-87349304-G-A
• COSMIC: COSM1071011 ; COSM1595673
• MyVariant Identifiers: chr5:g.86645121G>A (hg19) ; chr5:g.87349304G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87349304G>A , CM000667.2:g.87349304G>A	GRCh38
NC_000005.9:g.86645121G>A , CM000667.1:g.86645121G>A	GRCh37
NC_000005.8:g.86680877G>A	NCBI36
NG_011650.1:g.85971G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.1193G>A (RASA1) MANE Select	ENSP00000274376.6:p.Arg398Gln
ENST00000645953.1:c.*91-30407C>T (CCNH)	ENSP00000494460.1:n.*91-30407C>T
ENST00000274376.10:c.1193G>A (RASA1)	ENSP00000274376.6:p.Arg398Gln
ENST00000456692.6:c.662G>A (RASA1)	ENSP00000411221.2:p.Arg221Gln
ENST00000506290.1:c.695G>A (RASA1)	ENSP00000420905.1:p.Arg232Gln
ENST00000509953.1:n.296G>A (RASA1)
ENST00000512763.5:c.692G>A (RASA1)	ENSP00000422008.1:p.Arg231Gln
ENST00000515800.6:c.1193G>A (RASA1)	ENSP00000423395.2:p.Arg398Gln
NM_002890.2:c.1193G>A (RASA1)	NP_002881.1:p.Arg398Gln
NM_022650.2:c.662G>A (RASA1)	NP_072179.1:p.Arg221Gln
XM_011543525.1:c.1193G>A (RASA1)	XP_011541827.1:p.Arg398Gln
XM_011543526.1:c.1193G>A (RASA1)	XP_011541828.1:p.Arg398Gln
XM_011543527.1:c.1193G>A (RASA1)	XP_011541829.1:p.Arg398Gln
NM_001364075.1:c.934-36509C>T (CCNH)	NP_001351004.1:n.934-36509C>T
NR_157068.1:n.1448-36509C>T (CCNH)
NR_157069.1:n.1041-36509C>T (CCNH)
NR_157070.1:n.1205-36509C>T (CCNH)
XM_011543525.2:c.1193G>A (RASA1)	XP_011541827.1:p.Arg398Gln
XM_011543527.3:c.1193G>A (RASA1)	XP_011541829.1:p.Arg398Gln
NM_001364075.2:c.934-36509C>T (CCNH)	NP_001351004.1:n.934-36509C>T
NM_002890.3:c.1193G>A (RASA1) MANE Select	NP_002881.1:p.Arg398Gln
NR_157068.2:n.1448-36509C>T (CCNH)
NR_157069.2:n.1041-36509C>T (CCNH)
NR_157070.2:n.1205-36509C>T (CCNH)
NM_022650.3:c.662G>A (RASA1)	NP_072179.1:p.Arg221Gln