Canonical Allele Identifier: CA398997574

Gene: NF1

Linked Data

• dbSNP Id: rs864622299
• MyVariant Identifiers: chr17:g.29585381C>A (hg19) ; chr17:g.31258363C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258363C>A , CM000679.2:g.31258363C>A	GRCh38
NC_000017.10:g.29585381C>A , CM000679.1:g.29585381C>A	GRCh37
NC_000017.9:g.26609507C>A	NCBI36
NG_009018.1:g.168387C>A , LRG_214:g.168387C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4175C>A	ENSP00000512431.1:p.Pro1392His
ENST00000696140.1:n.299C>A
ENST00000696141.1:c.184C>A
ENST00000687863.1:n.838C>A
ENST00000691014.1:c.4223C>A	ENSP00000510595.1:p.Pro1408His
ENST00000691649.1:n.165C>A
ENST00000358273.9:c.4193C>A MANE Select	ENSP00000351015.4:p.Pro1398His
ENST00000356175.7:c.4130C>A	ENSP00000348498.3:p.Pro1377His
ENST00000358273.8:c.4193C>A	ENSP00000351015.4:p.Pro1398His
ENST00000456735.6:c.3128C>A	ENSP00000389907.2:p.Pro1043His
ENST00000466819.5:c.709C>A
ENST00000479614.1:c.646C>A
ENST00000493220.5:n.2666C>A
ENST00000579081.5:c.4232C>A	ENSP00000462408.1:p.Pro1411His
NM_000267.3:c.4130C>A , LRG_214t1:c.4130C>A	NP_000258.1:p.Pro1377His
NM_001042492.2:c.4193C>A , LRG_214t2:c.4193C>A	NP_001035957.1:p.Pro1398His
XM_005257983.1:c.4193C>A	XP_005258040.1:p.Pro1398His
XM_005257984.1:c.4130C>A	XP_005258041.1:p.Pro1377His
XM_006721922.1:c.4223C>A	XP_006721985.1:p.Pro1408His
XM_006721923.2:c.4184C>A	XP_006721986.1:p.Pro1395His
XM_006721924.1:c.4223C>A	XP_006721987.1:p.Pro1408His
XM_006721925.1:c.4160C>A	XP_006721988.1:p.Pro1387His
XM_006721926.2:c.4223C>A	XP_006721989.1:p.Pro1408His
XM_006721927.1:c.4223C>A	XP_006721990.1:p.Pro1408His
XM_006721928.2:c.4223C>A	XP_006721991.1:p.Pro1408His
XM_011524852.1:c.4220C>A	XP_011523154.1:p.Pro1407His
XM_011524853.1:c.4184C>A	XP_011523155.1:p.Pro1395His
XM_011524854.1:c.4184C>A	XP_011523156.1:p.Pro1395His
XM_011524855.1:c.4184C>A	XP_011523157.1:p.Pro1395His
XM_011524856.1:c.4184C>A	XP_011523158.1:p.Pro1395His
XM_011524857.1:c.4223C>A	XP_011523159.1:p.Pro1408His
NM_001042492.3:c.4193C>A MANE Select	NP_001035957.1:p.Pro1398His