Canonical Allele Identifier: CA399015510

Gene: NF1

Linked Data

• ClinVar Variation Id: 950512
• ClinVar RCV Id: RCV001222236
• dbSNP Id: rs1555535402
• MyVariant Identifiers: chr17:g.29670031C>A (hg19) ; chr17:g.31343013C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343013C>A , CM000679.2:g.31343013C>A	GRCh38
NC_000017.10:g.29670031C>A , CM000679.1:g.29670031C>A	GRCh37
NC_000017.9:g.26694157C>A	NCBI36
NG_009018.1:g.253037C>A , LRG_214:g.253037C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7049C>A	ENSP00000512431.1:p.Pro2350Gln
ENST00000684826.1:c.1631C>A	ENSP00000509994.1:p.Pro544Gln
ENST00000687027.1:c.1223C>A	ENSP00000508715.1:p.Pro408Gln
ENST00000687863.1:n.3712C>A
ENST00000689464.1:c.6C>A
ENST00000691014.1:c.7097C>A	ENSP00000510595.1:p.Pro2366Gln
ENST00000693617.1:c.1631C>A	ENSP00000510031.1:p.Pro544Gln
ENST00000358273.9:c.7067C>A MANE Select	ENSP00000351015.4:p.Pro2356Gln
ENST00000356175.7:c.7004C>A	ENSP00000348498.3:p.Pro2335Gln
ENST00000358273.8:c.7067C>A	ENSP00000351015.4:p.Pro2356Gln
ENST00000456735.6:c.6002C>A	ENSP00000389907.2:p.Pro2001Gln
ENST00000471572.6:c.450C>A
ENST00000579081.5:c.7203C>A	ENSP00000462408.1:n.7203C>A
ENST00000581790.5:c.210C>A
ENST00000582892.1:n.309C>A
ENST00000584328.1:n.481C>A
NM_000267.3:c.7004C>A , LRG_214t1:c.7004C>A	NP_000258.1:p.Pro2335Gln
NM_001042492.2:c.7067C>A , LRG_214t2:c.7067C>A	NP_001035957.1:p.Pro2356Gln
XM_005257983.1:c.7067C>A	XP_005258040.1:p.Pro2356Gln
XM_005257984.1:c.7004C>A	XP_005258041.1:p.Pro2335Gln
XM_006721922.1:c.7097C>A	XP_006721985.1:p.Pro2366Gln
XM_006721923.2:c.7058C>A	XP_006721986.1:p.Pro2353Gln
XM_006721924.1:c.7097C>A	XP_006721987.1:p.Pro2366Gln
XM_006721925.1:c.7034C>A	XP_006721988.1:p.Pro2345Gln
XM_006721926.2:c.7097C>A	XP_006721989.1:p.Pro2366Gln
XM_006721927.1:c.7097C>A	XP_006721990.1:p.Pro2366Gln
XM_011524852.1:c.7094C>A	XP_011523154.1:p.Pro2365Gln
XM_011524853.1:c.7058C>A	XP_011523155.1:p.Pro2353Gln
XM_011524854.1:c.7058C>A	XP_011523156.1:p.Pro2353Gln
XM_011524855.1:c.7058C>A	XP_011523157.1:p.Pro2353Gln
XM_011524856.1:c.7058C>A	XP_011523158.1:p.Pro2353Gln
XM_011524857.1:c.7097C>A	XP_011523159.1:p.Pro2366Gln
NM_001042492.3:c.7067C>A MANE Select	NP_001035957.1:p.Pro2356Gln