Canonical Allele Identifier: CA499233555

Gene: NF1

Linked Data

• dbSNP Id: rs2151544938
• gnomAD v3: 17-31330467-G-A
• gnomAD v4: 17-31330467-G-A
• MyVariant Identifiers: chr17:g.29657485G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330467G>A , CM000679.2:g.31330467G>A	GRCh38
NC_000017.10:g.29657485G>A , CM000679.1:g.29657485G>A	GRCh37
NC_000017.9:g.26681611G>A	NCBI36
NG_009018.1:g.240491G>A , LRG_214:g.240491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1969G>A	ENSP00000492721.2:n.1969G>A
ENST00000696138.1:c.5763G>A	ENSP00000512431.1:p.Leu1921=
ENST00000684826.1:c.345G>A	ENSP00000509994.1:p.Leu115=
ENST00000687027.1:c.-64G>A	ENSP00000508715.1:n.-64G>A
ENST00000687863.1:n.2426G>A
ENST00000691014.1:c.5811G>A	ENSP00000510595.1:p.Leu1937=
ENST00000693617.1:c.345G>A	ENSP00000510031.1:p.Leu115=
ENST00000358273.9:c.5781G>A MANE Select	ENSP00000351015.4:p.Leu1927=
ENST00000356175.7:c.5718G>A	ENSP00000348498.3:p.Leu1906=
ENST00000358273.8:c.5781G>A	ENSP00000351015.4:p.Leu1927=
ENST00000456735.6:c.4716G>A	ENSP00000389907.2:p.Leu1572=
ENST00000479536.2:c.139G>A
ENST00000493220.5:n.4254G>A
ENST00000579081.5:c.5917G>A	ENSP00000462408.1:n.5917G>A
ENST00000581113.6:n.1098G>A
NM_000267.3:c.5718G>A , LRG_214t1:c.5718G>A	NP_000258.1:p.Leu1906=
NM_001042492.2:c.5781G>A , LRG_214t2:c.5781G>A	NP_001035957.1:p.Leu1927=
XM_005257983.1:c.5781G>A	XP_005258040.1:p.Leu1927=
XM_005257984.1:c.5718G>A	XP_005258041.1:p.Leu1906=
XM_006721922.1:c.5811G>A	XP_006721985.1:p.Leu1937=
XM_006721923.2:c.5772G>A	XP_006721986.1:p.Leu1924=
XM_006721924.1:c.5811G>A	XP_006721987.1:p.Leu1937=
XM_006721925.1:c.5748G>A	XP_006721988.1:p.Leu1916=
XM_006721926.2:c.5811G>A	XP_006721989.1:p.Leu1937=
XM_006721927.1:c.5811G>A	XP_006721990.1:p.Leu1937=
XM_011524852.1:c.5808G>A	XP_011523154.1:p.Leu1936=
XM_011524853.1:c.5772G>A	XP_011523155.1:p.Leu1924=
XM_011524854.1:c.5772G>A	XP_011523156.1:p.Leu1924=
XM_011524855.1:c.5772G>A	XP_011523157.1:p.Leu1924=
XM_011524856.1:c.5772G>A	XP_011523158.1:p.Leu1924=
XM_011524857.1:c.5811G>A	XP_011523159.1:p.Leu1937=
NM_001042492.3:c.5781G>A MANE Select	NP_001035957.1:p.Leu1927=