Canonical Allele Identifier: CA915949924

Gene: NF1

Linked Data

• ClinVar Variation Id: 645590
• ClinVar RCV Id: RCV000799702
• dbSNP Id: rs1597720280

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233218G>C , CM000679.2:g.31233218G>C	GRCh38
NC_000017.10:g.29560236G>C , CM000679.1:g.29560236G>C	GRCh37
NC_000017.9:g.26584362G>C	NCBI36
NG_009018.1:g.143242G>C , LRG_214:g.143242G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3753+5G>C	ENSP00000512431.1:n.3753+5G>C
ENST00000696139.1:c.1053+5G>C	ENSP00000512432.1:n.1053+5G>C
ENST00000691014.1:c.3738+5G>C	ENSP00000510595.1:n.3738+5G>C
ENST00000693210.1:n.439G>C
ENST00000358273.9:c.3708+5G>C MANE Select	ENSP00000351015.4:n.3708+5G>C
ENST00000356175.7:c.3708+5G>C	ENSP00000348498.3:n.3708+5G>C
ENST00000358273.8:c.3708+5G>C	ENSP00000351015.4:n.3708+5G>C
ENST00000456735.6:c.2706+5G>C	ENSP00000389907.2:n.2706+5G>C
ENST00000466819.5:c.184+5G>C
ENST00000479614.1:c.184+5G>C
ENST00000493220.5:n.2244+5G>C
ENST00000495910.6:c.3483+5G>C
ENST00000579081.5:c.3810+5G>C	ENSP00000462408.1:n.3810+5G>C
NM_000267.3:c.3708+5G>C , LRG_214t1:c.3708+5G>C	NP_000258.1:n.3708+5G>C
NM_001042492.2:c.3708+5G>C , LRG_214t2:c.3708+5G>C	NP_001035957.1:n.3708+5G>C
XM_005257983.1:c.3708+5G>C	XP_005258040.1:n.3708+5G>C
XM_005257984.1:c.3708+5G>C	XP_005258041.1:n.3708+5G>C
XM_006721922.1:c.3738+5G>C	XP_006721985.1:n.3738+5G>C
XM_006721923.2:c.3699+5G>C	XP_006721986.1:n.3699+5G>C
XM_006721924.1:c.3738+5G>C	XP_006721987.1:n.3738+5G>C
XM_006721925.1:c.3738+5G>C	XP_006721988.1:n.3738+5G>C
XM_006721926.2:c.3738+5G>C	XP_006721989.1:n.3738+5G>C
XM_006721927.1:c.3738+5G>C	XP_006721990.1:n.3738+5G>C
XM_006721928.2:c.3738+5G>C	XP_006721991.1:n.3738+5G>C
XM_011524852.1:c.3735+5G>C	XP_011523154.1:n.3735+5G>C
XM_011524853.1:c.3699+5G>C	XP_011523155.1:n.3699+5G>C
XM_011524854.1:c.3699+5G>C	XP_011523156.1:n.3699+5G>C
XM_011524855.1:c.3699+5G>C	XP_011523157.1:n.3699+5G>C
XM_011524856.1:c.3699+5G>C	XP_011523158.1:n.3699+5G>C
XM_011524857.1:c.3738+5G>C	XP_011523159.1:n.3738+5G>C
NM_001042492.3:c.3708+5G>C MANE Select	NP_001035957.1:n.3708+5G>C