Canonical Allele Identifier: CA625476016

Gene: NF1

Linked Data

• dbSNP Id: rs1437745627
• gnomAD v2: 17-29586009-A-G
• gnomAD v4: 17-31258991-A-G
• MyVariant Identifiers: chr17:g.29586009A>G (hg19) ; chr17:g.31258991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258991A>G , CM000679.2:g.31258991A>G	GRCh38
NC_000017.10:g.29586009A>G , CM000679.1:g.29586009A>G	GRCh37
NC_000017.9:g.26610135A>G	NCBI36
NG_009018.1:g.169015A>G , LRG_214:g.169015A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.121-41A>G	ENSP00000492721.2:n.121-41A>G
ENST00000696138.1:c.4315-41A>G	ENSP00000512431.1:n.4315-41A>G
ENST00000696140.1:n.439-41A>G
ENST00000696141.1:c.324-41A>G
ENST00000687863.1:n.978-41A>G
ENST00000691014.1:c.4363-41A>G	ENSP00000510595.1:n.4363-41A>G
ENST00000691649.1:n.305-41A>G
ENST00000358273.9:c.4333-41A>G MANE Select	ENSP00000351015.4:n.4333-41A>G
ENST00000356175.7:c.4270-41A>G	ENSP00000348498.3:n.4270-41A>G
ENST00000358273.8:c.4333-41A>G	ENSP00000351015.4:n.4333-41A>G
ENST00000456735.6:c.3268-41A>G	ENSP00000389907.2:n.3268-41A>G
ENST00000466819.5:c.849-41A>G
ENST00000479614.1:c.786-41A>G
ENST00000493220.5:n.2806-41A>G
ENST00000579081.5:c.4372-41A>G	ENSP00000462408.1:n.4372-41A>G
NM_000267.3:c.4270-41A>G , LRG_214t1:c.4270-41A>G	NP_000258.1:n.4270-41A>G
NM_001042492.2:c.4333-41A>G , LRG_214t2:c.4333-41A>G	NP_001035957.1:n.4333-41A>G
XM_005257983.1:c.4333-41A>G	XP_005258040.1:n.4333-41A>G
XM_005257984.1:c.4270-41A>G	XP_005258041.1:n.4270-41A>G
XM_006721922.1:c.4363-41A>G	XP_006721985.1:n.4363-41A>G
XM_006721923.2:c.4324-41A>G	XP_006721986.1:n.4324-41A>G
XM_006721924.1:c.4363-41A>G	XP_006721987.1:n.4363-41A>G
XM_006721925.1:c.4300-41A>G	XP_006721988.1:n.4300-41A>G
XM_006721926.2:c.4363-41A>G	XP_006721989.1:n.4363-41A>G
XM_006721927.1:c.4363-41A>G	XP_006721990.1:n.4363-41A>G
XM_006721928.2:c.4363-41A>G	XP_006721991.1:n.4363-41A>G
XM_011524852.1:c.4360-41A>G	XP_011523154.1:n.4360-41A>G
XM_011524853.1:c.4324-41A>G	XP_011523155.1:n.4324-41A>G
XM_011524854.1:c.4324-41A>G	XP_011523156.1:n.4324-41A>G
XM_011524855.1:c.4324-41A>G	XP_011523157.1:n.4324-41A>G
XM_011524856.1:c.4324-41A>G	XP_011523158.1:n.4324-41A>G
XM_011524857.1:c.4363-41A>G	XP_011523159.1:n.4363-41A>G
NM_001042492.3:c.4333-41A>G MANE Select	NP_001035957.1:n.4333-41A>G