Canonical Allele Identifier: CA2637080162

Gene: NF1

Linked Data

• dbSNP Id: rs2151461713
• gnomAD v4: 17-31258337-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258337T>G , CM000679.2:g.31258337T>G	GRCh38
NC_000017.10:g.29585355T>G , CM000679.1:g.29585355T>G	GRCh37
NC_000017.9:g.26609481T>G	NCBI36
NG_009018.1:g.168361T>G , LRG_214:g.168361T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4156-7T>G	ENSP00000512431.1:n.4156-7T>G
ENST00000696140.1:n.280-7T>G
ENST00000696141.1:c.165-7T>G
ENST00000687863.1:n.819-7T>G
ENST00000691014.1:c.4204-7T>G	ENSP00000510595.1:n.4204-7T>G
ENST00000691649.1:n.139T>G
ENST00000358273.9:c.4174-7T>G MANE Select	ENSP00000351015.4:n.4174-7T>G
ENST00000356175.7:c.4111-7T>G	ENSP00000348498.3:n.4111-7T>G
ENST00000358273.8:c.4174-7T>G	ENSP00000351015.4:n.4174-7T>G
ENST00000456735.6:c.3109-7T>G	ENSP00000389907.2:n.3109-7T>G
ENST00000466819.5:c.690-7T>G
ENST00000479614.1:c.627-7T>G
ENST00000493220.5:n.2647-7T>G
ENST00000579081.5:c.4213-7T>G	ENSP00000462408.1:n.4213-7T>G
NM_000267.3:c.4111-7T>G , LRG_214t1:c.4111-7T>G	NP_000258.1:n.4111-7T>G
NM_001042492.2:c.4174-7T>G , LRG_214t2:c.4174-7T>G	NP_001035957.1:n.4174-7T>G
XM_005257983.1:c.4174-7T>G	XP_005258040.1:n.4174-7T>G
XM_005257984.1:c.4111-7T>G	XP_005258041.1:n.4111-7T>G
XM_006721922.1:c.4204-7T>G	XP_006721985.1:n.4204-7T>G
XM_006721923.2:c.4165-7T>G	XP_006721986.1:n.4165-7T>G
XM_006721924.1:c.4204-7T>G	XP_006721987.1:n.4204-7T>G
XM_006721925.1:c.4141-7T>G	XP_006721988.1:n.4141-7T>G
XM_006721926.2:c.4204-7T>G	XP_006721989.1:n.4204-7T>G
XM_006721927.1:c.4204-7T>G	XP_006721990.1:n.4204-7T>G
XM_006721928.2:c.4204-7T>G	XP_006721991.1:n.4204-7T>G
XM_011524852.1:c.4201-7T>G	XP_011523154.1:n.4201-7T>G
XM_011524853.1:c.4165-7T>G	XP_011523155.1:n.4165-7T>G
XM_011524854.1:c.4165-7T>G	XP_011523156.1:n.4165-7T>G
XM_011524855.1:c.4165-7T>G	XP_011523157.1:n.4165-7T>G
XM_011524856.1:c.4165-7T>G	XP_011523158.1:n.4165-7T>G
XM_011524857.1:c.4204-7T>G	XP_011523159.1:n.4204-7T>G
NM_001042492.3:c.4174-7T>G MANE Select	NP_001035957.1:n.4174-7T>G