Canonical Allele Identifier: CA499233870

Gene: NF1

Linked Data

• ClinVar Variation Id: 1741590
• ClinVar RCV Id: RCV002342157
• dbSNP Id: rs2151466336
• gnomAD v4: 17-31261771-G-A
• MyVariant Identifiers: chr17:g.29588789G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261771G>A , CM000679.2:g.31261771G>A	GRCh38
NC_000017.10:g.29588789G>A , CM000679.1:g.29588789G>A	GRCh37
NC_000017.9:g.26612915G>A	NCBI36
NG_009018.1:g.171795G>A , LRG_214:g.171795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.440G>A	ENSP00000492721.2:p.Trp147Ter
ENST00000696138.1:c.4620G>A	ENSP00000512431.1:p.Leu1540=
ENST00000696140.1:n.744G>A
ENST00000696141.1:c.629G>A
ENST00000687863.1:n.1283G>A
ENST00000691014.1:c.4668G>A	ENSP00000510595.1:p.Leu1556=
ENST00000358273.9:c.4638G>A MANE Select	ENSP00000351015.4:p.Leu1546=
ENST00000356175.7:c.4575G>A	ENSP00000348498.3:p.Leu1525=
ENST00000358273.8:c.4638G>A	ENSP00000351015.4:p.Leu1546=
ENST00000456735.6:c.3573G>A	ENSP00000389907.2:p.Leu1191=
ENST00000466819.5:c.1154G>A
ENST00000479614.1:c.1091G>A
ENST00000493220.5:n.3111G>A
ENST00000579081.5:c.4677G>A	ENSP00000462408.1:p.Leu1559=
NM_000267.3:c.4575G>A , LRG_214t1:c.4575G>A	NP_000258.1:p.Leu1525=
NM_001042492.2:c.4638G>A , LRG_214t2:c.4638G>A	NP_001035957.1:p.Leu1546=
XM_005257983.1:c.4638G>A	XP_005258040.1:p.Leu1546=
XM_005257984.1:c.4575G>A	XP_005258041.1:p.Leu1525=
XM_006721922.1:c.4668G>A	XP_006721985.1:p.Leu1556=
XM_006721923.2:c.4629G>A	XP_006721986.1:p.Leu1543=
XM_006721924.1:c.4668G>A	XP_006721987.1:p.Leu1556=
XM_006721925.1:c.4605G>A	XP_006721988.1:p.Leu1535=
XM_006721926.2:c.4668G>A	XP_006721989.1:p.Leu1556=
XM_006721927.1:c.4668G>A	XP_006721990.1:p.Leu1556=
XM_006721928.2:c.4668G>A	XP_006721991.1:p.Leu1556=
XM_011524852.1:c.4665G>A	XP_011523154.1:p.Leu1555=
XM_011524853.1:c.4629G>A	XP_011523155.1:p.Leu1543=
XM_011524854.1:c.4629G>A	XP_011523156.1:p.Leu1543=
XM_011524855.1:c.4629G>A	XP_011523157.1:p.Leu1543=
XM_011524856.1:c.4629G>A	XP_011523158.1:p.Leu1543=
XM_011524857.1:c.4668G>A	XP_011523159.1:p.Leu1556=
NM_001042492.3:c.4638G>A MANE Select	NP_001035957.1:p.Leu1546=