Canonical Allele Identifier: CA499234208

Gene: NF1

Linked Data

• dbSNP Id: rs2151470368
• gnomAD v4: 17-31265337-G-A
• MyVariant Identifiers: chr17:g.29592355G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265337G>A , CM000679.2:g.31265337G>A	GRCh38
NC_000017.10:g.29592355G>A , CM000679.1:g.29592355G>A	GRCh37
NC_000017.9:g.26616481G>A	NCBI36
NG_009018.1:g.175361G>A , LRG_214:g.175361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.635G>A	ENSP00000492721.2:n.635G>A
ENST00000696138.1:c.4815G>A	ENSP00000512431.1:p.Arg1605=
ENST00000696140.1:n.939G>A
ENST00000696141.1:c.824G>A
ENST00000687863.1:n.1478G>A
ENST00000691014.1:c.4863G>A	ENSP00000510595.1:p.Arg1621=
ENST00000358273.9:c.4833G>A MANE Select	ENSP00000351015.4:p.Arg1611=
ENST00000356175.7:c.4770G>A	ENSP00000348498.3:p.Arg1590=
ENST00000358273.8:c.4833G>A	ENSP00000351015.4:p.Arg1611=
ENST00000456735.6:c.3768G>A	ENSP00000389907.2:p.Arg1256=
ENST00000493220.5:n.3306G>A
ENST00000579081.5:c.4872G>A	ENSP00000462408.1:p.Arg1624=
NM_000267.3:c.4770G>A , LRG_214t1:c.4770G>A	NP_000258.1:p.Arg1590=
NM_001042492.2:c.4833G>A , LRG_214t2:c.4833G>A	NP_001035957.1:p.Arg1611=
XM_005257983.1:c.4833G>A	XP_005258040.1:p.Arg1611=
XM_005257984.1:c.4770G>A	XP_005258041.1:p.Arg1590=
XM_006721922.1:c.4863G>A	XP_006721985.1:p.Arg1621=
XM_006721923.2:c.4824G>A	XP_006721986.1:p.Arg1608=
XM_006721924.1:c.4863G>A	XP_006721987.1:p.Arg1621=
XM_006721925.1:c.4800G>A	XP_006721988.1:p.Arg1600=
XM_006721926.2:c.4863G>A	XP_006721989.1:p.Arg1621=
XM_006721927.1:c.4863G>A	XP_006721990.1:p.Arg1621=
XM_006721928.2:c.4863G>A	XP_006721991.1:p.Arg1621=
XM_011524852.1:c.4860G>A	XP_011523154.1:p.Arg1620=
XM_011524853.1:c.4824G>A	XP_011523155.1:p.Arg1608=
XM_011524854.1:c.4824G>A	XP_011523156.1:p.Arg1608=
XM_011524855.1:c.4824G>A	XP_011523157.1:p.Arg1608=
XM_011524856.1:c.4824G>A	XP_011523158.1:p.Arg1608=
XM_011524857.1:c.4863G>A	XP_011523159.1:p.Arg1621=
NM_001042492.3:c.4833G>A MANE Select	NP_001035957.1:p.Arg1611=