Canonical Allele Identifier: CA2637081175

Gene: NF1

Linked Data

• gnomAD v4: 17-31258982-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258982C>A , CM000679.2:g.31258982C>A	GRCh38
NC_000017.10:g.29586000C>A , CM000679.1:g.29586000C>A	GRCh37
NC_000017.9:g.26610126C>A	NCBI36
NG_009018.1:g.169006C>A , LRG_214:g.169006C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.121-50C>A	ENSP00000492721.2:n.121-50C>A
ENST00000696138.1:c.4315-50C>A	ENSP00000512431.1:n.4315-50C>A
ENST00000696140.1:n.439-50C>A
ENST00000696141.1:c.324-50C>A
ENST00000687863.1:n.978-50C>A
ENST00000691014.1:c.4363-50C>A	ENSP00000510595.1:n.4363-50C>A
ENST00000691649.1:n.305-50C>A
ENST00000358273.9:c.4333-50C>A MANE Select	ENSP00000351015.4:n.4333-50C>A
ENST00000356175.7:c.4270-50C>A	ENSP00000348498.3:n.4270-50C>A
ENST00000358273.8:c.4333-50C>A	ENSP00000351015.4:n.4333-50C>A
ENST00000456735.6:c.3268-50C>A	ENSP00000389907.2:n.3268-50C>A
ENST00000466819.5:c.849-50C>A
ENST00000479614.1:c.786-50C>A
ENST00000493220.5:n.2806-50C>A
ENST00000579081.5:c.4372-50C>A	ENSP00000462408.1:n.4372-50C>A
NM_000267.3:c.4270-50C>A , LRG_214t1:c.4270-50C>A	NP_000258.1:n.4270-50C>A
NM_001042492.2:c.4333-50C>A , LRG_214t2:c.4333-50C>A	NP_001035957.1:n.4333-50C>A
XM_005257983.1:c.4333-50C>A	XP_005258040.1:n.4333-50C>A
XM_005257984.1:c.4270-50C>A	XP_005258041.1:n.4270-50C>A
XM_006721922.1:c.4363-50C>A	XP_006721985.1:n.4363-50C>A
XM_006721923.2:c.4324-50C>A	XP_006721986.1:n.4324-50C>A
XM_006721924.1:c.4363-50C>A	XP_006721987.1:n.4363-50C>A
XM_006721925.1:c.4300-50C>A	XP_006721988.1:n.4300-50C>A
XM_006721926.2:c.4363-50C>A	XP_006721989.1:n.4363-50C>A
XM_006721927.1:c.4363-50C>A	XP_006721990.1:n.4363-50C>A
XM_006721928.2:c.4363-50C>A	XP_006721991.1:n.4363-50C>A
XM_011524852.1:c.4360-50C>A	XP_011523154.1:n.4360-50C>A
XM_011524853.1:c.4324-50C>A	XP_011523155.1:n.4324-50C>A
XM_011524854.1:c.4324-50C>A	XP_011523156.1:n.4324-50C>A
XM_011524855.1:c.4324-50C>A	XP_011523157.1:n.4324-50C>A
XM_011524856.1:c.4324-50C>A	XP_011523158.1:n.4324-50C>A
XM_011524857.1:c.4363-50C>A	XP_011523159.1:n.4363-50C>A
NM_001042492.3:c.4333-50C>A MANE Select	NP_001035957.1:n.4333-50C>A