Canonical Allele Identifier: CA10639346

Gene: NF1

Linked Data

• ClinVar Variation Id: 322592
• ClinVar RCV Id: RCV000267334 ; RCV000317828 ; RCV000362061 ; RCV000372073 ; RCV003422283
• dbSNP Id: rs547663480
• gnomAD v2: 17-29703072-A-G
• gnomAD v3: 17-31376054-A-G
• gnomAD v4: 17-31376054-A-G
• MyVariant Identifiers: chr17:g.29703072A>G (hg19) ; chr17:g.31376054A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31376054A>G , CM000679.2:g.31376054A>G	GRCh38
NC_000017.10:g.29703072A>G , CM000679.1:g.29703072A>G	GRCh37
NC_000017.9:g.26727198A>G	NCBI36
NG_009018.1:g.286078A>G , LRG_214:g.286078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.*2054A>G	ENSP00000512431.1:n.*2054A>G
ENST00000684826.1:c.*1899A>G	ENSP00000509994.1:n.*1899A>G
ENST00000687027.1:c.*1899A>G	ENSP00000508715.1:n.*1899A>G
ENST00000689464.1:c.3523A>G
ENST00000691014.1:c.*1899A>G	ENSP00000510595.1:n.*1899A>G
ENST00000693617.1:c.*1899A>G	ENSP00000510031.1:n.*1899A>G
ENST00000358273.9:c.*1899A>G MANE Select	ENSP00000351015.4:n.*1899A>G
ENST00000356175.7:c.*1899A>G	ENSP00000348498.3:n.*1899A>G
ENST00000358273.8:c.*1899A>G	ENSP00000351015.4:n.*1899A>G
ENST00000471572.6:c.1877+1925A>G
NM_000267.3:c.*1899A>G , LRG_214t1:c.*1899A>G	NP_000258.1:n.*1899A>G
NM_001042492.2:c.*1899A>G , LRG_214t2:c.*1899A>G	NP_001035957.1:n.*1899A>G
XM_005257983.1:c.*1899A>G	XP_005258040.1:n.*1899A>G
XM_005257984.1:c.*1899A>G	XP_005258041.1:n.*1899A>G
XM_006721922.1:c.*1899A>G	XP_006721985.1:n.*1899A>G
XM_006721923.2:c.*1899A>G	XP_006721986.1:n.*1899A>G
XM_006721924.1:c.*1899A>G	XP_006721987.1:n.*1899A>G
XM_006721925.1:c.*1899A>G	XP_006721988.1:n.*1899A>G
XM_011524852.1:c.*1899A>G	XP_011523154.1:n.*1899A>G
XM_011524853.1:c.*1899A>G	XP_011523155.1:n.*1899A>G
XM_011524854.1:c.*1899A>G	XP_011523156.1:n.*1899A>G
XM_011524855.1:c.*1899A>G	XP_011523157.1:n.*1899A>G
XM_011524856.1:c.*1899A>G	XP_011523158.1:n.*1899A>G
XM_011524857.1:c.*1899A>G	XP_011523159.1:n.*1899A>G
NM_001042492.3:c.*1899A>G MANE Select	NP_001035957.1:n.*1899A>G