Canonical Allele Identifier: CA499234384

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29665820T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338802T>C , CM000679.2:g.31338802T>C	GRCh38
NC_000017.10:g.29665820T>C , CM000679.1:g.29665820T>C	GRCh37
NC_000017.9:g.26689946T>C	NCBI36
NG_009018.1:g.248826T>C , LRG_214:g.248826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6900T>C	ENSP00000512431.1:p.Asn2300=
ENST00000684826.1:c.1482T>C	ENSP00000509994.1:p.Asn494=
ENST00000684998.1:n.2740T>C
ENST00000687027.1:c.1074T>C	ENSP00000508715.1:p.Asn358=
ENST00000687863.1:n.3563T>C
ENST00000691014.1:c.6948T>C	ENSP00000510595.1:p.Asn2316=
ENST00000693617.1:c.1482T>C	ENSP00000510031.1:p.Asn494=
ENST00000358273.9:c.6918T>C MANE Select	ENSP00000351015.4:p.Asn2306=
ENST00000356175.7:c.6855T>C	ENSP00000348498.3:p.Asn2285=
ENST00000358273.8:c.6918T>C	ENSP00000351015.4:p.Asn2306=
ENST00000456735.6:c.5853T>C	ENSP00000389907.2:p.Asn1951=
ENST00000471572.6:c.301T>C
ENST00000579081.5:c.7054T>C	ENSP00000462408.1:n.7054T>C
ENST00000581790.5:c.64+922T>C
ENST00000584328.1:n.332T>C
NM_000267.3:c.6855T>C , LRG_214t1:c.6855T>C	NP_000258.1:p.Asn2285=
NM_001042492.2:c.6918T>C , LRG_214t2:c.6918T>C	NP_001035957.1:p.Asn2306=
XM_005257983.1:c.6918T>C	XP_005258040.1:p.Asn2306=
XM_005257984.1:c.6855T>C	XP_005258041.1:p.Asn2285=
XM_006721922.1:c.6948T>C	XP_006721985.1:p.Asn2316=
XM_006721923.2:c.6909T>C	XP_006721986.1:p.Asn2303=
XM_006721924.1:c.6948T>C	XP_006721987.1:p.Asn2316=
XM_006721925.1:c.6885T>C	XP_006721988.1:p.Asn2295=
XM_006721926.2:c.6948T>C	XP_006721989.1:p.Asn2316=
XM_006721927.1:c.6948T>C	XP_006721990.1:p.Asn2316=
XM_011524852.1:c.6945T>C	XP_011523154.1:p.Asn2315=
XM_011524853.1:c.6909T>C	XP_011523155.1:p.Asn2303=
XM_011524854.1:c.6909T>C	XP_011523156.1:p.Asn2303=
XM_011524855.1:c.6909T>C	XP_011523157.1:p.Asn2303=
XM_011524856.1:c.6909T>C	XP_011523158.1:p.Asn2303=
XM_011524857.1:c.6948T>C	XP_011523159.1:p.Asn2316=
NM_001042492.3:c.6918T>C MANE Select	NP_001035957.1:p.Asn2306=