Canonical Allele Identifier: CA8486174

Gene: NF1

Linked Data

• ClinVar Variation Id: 257284
• ClinVar RCV Id: RCV000253884 ; RCV000660036 ; RCV000680331
• dbSNP Id: rs9890283
• ExAC: 17:29559918 T / C
• gnomAD v2: 17-29559918-T-C
• gnomAD v3: 17-31232900-T-C
• gnomAD v4: 17-31232900-T-C
• MyVariant Identifiers: chr17:g.29559918T>C (hg19) ; chr17:g.31232900T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31232900T>C , CM000679.2:g.31232900T>C	GRCh38
NC_000017.10:g.29559918T>C , CM000679.1:g.29559918T>C	GRCh37
NC_000017.9:g.26584044T>C	NCBI36
NG_009018.1:g.142924T>C , LRG_214:g.142924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3541+19T>C	ENSP00000512431.1:n.3541+19T>C
ENST00000696139.1:c.841+19T>C	ENSP00000512432.1:n.841+19T>C
ENST00000691014.1:c.3526+19T>C	ENSP00000510595.1:n.3526+19T>C
ENST00000693210.1:n.222+19T>C
ENST00000358273.9:c.3496+19T>C MANE Select	ENSP00000351015.4:n.3496+19T>C
ENST00000356175.7:c.3496+19T>C	ENSP00000348498.3:n.3496+19T>C
ENST00000358273.8:c.3496+19T>C	ENSP00000351015.4:n.3496+19T>C
ENST00000456735.6:c.2494+19T>C	ENSP00000389907.2:n.2494+19T>C
ENST00000493220.5:n.2032+19T>C
ENST00000495910.6:c.3271+19T>C
ENST00000579081.5:c.3598+19T>C	ENSP00000462408.1:n.3598+19T>C
NM_000267.3:c.3496+19T>C , LRG_214t1:c.3496+19T>C	NP_000258.1:n.3496+19T>C
NM_001042492.2:c.3496+19T>C , LRG_214t2:c.3496+19T>C	NP_001035957.1:n.3496+19T>C
XM_005257983.1:c.3496+19T>C	XP_005258040.1:n.3496+19T>C
XM_005257984.1:c.3496+19T>C	XP_005258041.1:n.3496+19T>C
XM_006721922.1:c.3526+19T>C	XP_006721985.1:n.3526+19T>C
XM_006721923.2:c.3487+19T>C	XP_006721986.1:n.3487+19T>C
XM_006721924.1:c.3526+19T>C	XP_006721987.1:n.3526+19T>C
XM_006721925.1:c.3526+19T>C	XP_006721988.1:n.3526+19T>C
XM_006721926.2:c.3526+19T>C	XP_006721989.1:n.3526+19T>C
XM_006721927.1:c.3526+19T>C	XP_006721990.1:n.3526+19T>C
XM_006721928.2:c.3526+19T>C	XP_006721991.1:n.3526+19T>C
XM_011524852.1:c.3523+19T>C	XP_011523154.1:n.3523+19T>C
XM_011524853.1:c.3487+19T>C	XP_011523155.1:n.3487+19T>C
XM_011524854.1:c.3487+19T>C	XP_011523156.1:n.3487+19T>C
XM_011524855.1:c.3487+19T>C	XP_011523157.1:n.3487+19T>C
XM_011524856.1:c.3487+19T>C	XP_011523158.1:n.3487+19T>C
XM_011524857.1:c.3526+19T>C	XP_011523159.1:n.3526+19T>C
NM_001042492.3:c.3496+19T>C MANE Select	NP_001035957.1:n.3496+19T>C