Canonical Allele Identifier: CA8485964

Gene: NF1

Linked Data

• ClinVar Variation Id: 457580
• ClinVar RCV Id: RCV000528687 ; RCV002476107
• dbSNP Id: rs181838967
• ExAC: 17:29554532 T / A
• gnomAD v2: 17-29554532-T-A
• gnomAD v3: 17-31227514-T-A
• gnomAD v4: 17-31227514-T-A
• MyVariant Identifiers: chr17:g.29554532T>A (hg19) ; chr17:g.31227514T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31227514T>A , CM000679.2:g.31227514T>A	GRCh38
NC_000017.10:g.29554532T>A , CM000679.1:g.29554532T>A	GRCh37
NC_000017.9:g.26578658T>A	NCBI36
NG_009018.1:g.137538T>A , LRG_214:g.137538T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2371-9T>A	ENSP00000512431.1:n.2371-9T>A
ENST00000691014.1:c.2356-9T>A	ENSP00000510595.1:n.2356-9T>A
ENST00000358273.9:c.2326-9T>A MANE Select	ENSP00000351015.4:n.2326-9T>A
ENST00000356175.7:c.2326-9T>A	ENSP00000348498.3:n.2326-9T>A
ENST00000358273.8:c.2326-9T>A	ENSP00000351015.4:n.2326-9T>A
ENST00000456735.6:c.1324-9T>A	ENSP00000389907.2:n.1324-9T>A
ENST00000493220.5:n.493-9T>A
ENST00000495910.6:c.2101-9T>A
ENST00000579081.5:c.2428-9T>A	ENSP00000462408.1:n.2428-9T>A
NM_000267.3:c.2326-9T>A , LRG_214t1:c.2326-9T>A	NP_000258.1:n.2326-9T>A
NM_001042492.2:c.2326-9T>A , LRG_214t2:c.2326-9T>A	NP_001035957.1:n.2326-9T>A
XM_005257983.1:c.2326-9T>A	XP_005258040.1:n.2326-9T>A
XM_005257984.1:c.2326-9T>A	XP_005258041.1:n.2326-9T>A
XM_006721922.1:c.2356-9T>A	XP_006721985.1:n.2356-9T>A
XM_006721923.2:c.2317-9T>A	XP_006721986.1:n.2317-9T>A
XM_006721924.1:c.2356-9T>A	XP_006721987.1:n.2356-9T>A
XM_006721925.1:c.2356-9T>A	XP_006721988.1:n.2356-9T>A
XM_006721926.2:c.2356-9T>A	XP_006721989.1:n.2356-9T>A
XM_006721927.1:c.2356-9T>A	XP_006721990.1:n.2356-9T>A
XM_006721928.2:c.2356-9T>A	XP_006721991.1:n.2356-9T>A
XM_011524852.1:c.2353-9T>A	XP_011523154.1:n.2353-9T>A
XM_011524853.1:c.2317-9T>A	XP_011523155.1:n.2317-9T>A
XM_011524854.1:c.2317-9T>A	XP_011523156.1:n.2317-9T>A
XM_011524855.1:c.2317-9T>A	XP_011523157.1:n.2317-9T>A
XM_011524856.1:c.2317-9T>A	XP_011523158.1:n.2317-9T>A
XM_011524857.1:c.2356-9T>A	XP_011523159.1:n.2356-9T>A
NM_001042492.3:c.2326-9T>A MANE Select	NP_001035957.1:n.2326-9T>A