Canonical Allele Identifier: CA499234196

Gene: NF1

Linked Data

• dbSNP Id: rs2151470305
• gnomAD v4: 17-31265319-T-C
• MyVariant Identifiers: chr17:g.29592337T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265319T>C , CM000679.2:g.31265319T>C	GRCh38
NC_000017.10:g.29592337T>C , CM000679.1:g.29592337T>C	GRCh37
NC_000017.9:g.26616463T>C	NCBI36
NG_009018.1:g.175343T>C , LRG_214:g.175343T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.617T>C	ENSP00000492721.2:n.617T>C
ENST00000696138.1:c.4797T>C	ENSP00000512431.1:p.Ile1599=
ENST00000696140.1:n.921T>C
ENST00000696141.1:c.806T>C
ENST00000687863.1:n.1460T>C
ENST00000691014.1:c.4845T>C	ENSP00000510595.1:p.Ile1615=
ENST00000358273.9:c.4815T>C MANE Select	ENSP00000351015.4:p.Ile1605=
ENST00000356175.7:c.4752T>C	ENSP00000348498.3:p.Ile1584=
ENST00000358273.8:c.4815T>C	ENSP00000351015.4:p.Ile1605=
ENST00000456735.6:c.3750T>C	ENSP00000389907.2:p.Ile1250=
ENST00000493220.5:n.3288T>C
ENST00000579081.5:c.4854T>C	ENSP00000462408.1:p.Ile1618=
NM_000267.3:c.4752T>C , LRG_214t1:c.4752T>C	NP_000258.1:p.Ile1584=
NM_001042492.2:c.4815T>C , LRG_214t2:c.4815T>C	NP_001035957.1:p.Ile1605=
XM_005257983.1:c.4815T>C	XP_005258040.1:p.Ile1605=
XM_005257984.1:c.4752T>C	XP_005258041.1:p.Ile1584=
XM_006721922.1:c.4845T>C	XP_006721985.1:p.Ile1615=
XM_006721923.2:c.4806T>C	XP_006721986.1:p.Ile1602=
XM_006721924.1:c.4845T>C	XP_006721987.1:p.Ile1615=
XM_006721925.1:c.4782T>C	XP_006721988.1:p.Ile1594=
XM_006721926.2:c.4845T>C	XP_006721989.1:p.Ile1615=
XM_006721927.1:c.4845T>C	XP_006721990.1:p.Ile1615=
XM_006721928.2:c.4845T>C	XP_006721991.1:p.Ile1615=
XM_011524852.1:c.4842T>C	XP_011523154.1:p.Ile1614=
XM_011524853.1:c.4806T>C	XP_011523155.1:p.Ile1602=
XM_011524854.1:c.4806T>C	XP_011523156.1:p.Ile1602=
XM_011524855.1:c.4806T>C	XP_011523157.1:p.Ile1602=
XM_011524856.1:c.4806T>C	XP_011523158.1:p.Ile1602=
XM_011524857.1:c.4845T>C	XP_011523159.1:p.Ile1615=
NM_001042492.3:c.4815T>C MANE Select	NP_001035957.1:p.Ile1605=