Canonical Allele Identifier: CA499234356

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29665787A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338769A>C , CM000679.2:g.31338769A>C	GRCh38
NC_000017.10:g.29665787A>C , CM000679.1:g.29665787A>C	GRCh37
NC_000017.9:g.26689913A>C	NCBI36
NG_009018.1:g.248793A>C , LRG_214:g.248793A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6867A>C	ENSP00000512431.1:p.Val2289=
ENST00000684826.1:c.1449A>C	ENSP00000509994.1:p.Val483=
ENST00000684998.1:n.2707A>C
ENST00000687027.1:c.1041A>C	ENSP00000508715.1:p.Val347=
ENST00000687863.1:n.3530A>C
ENST00000691014.1:c.6915A>C	ENSP00000510595.1:p.Val2305=
ENST00000693617.1:c.1449A>C	ENSP00000510031.1:p.Val483=
ENST00000358273.9:c.6885A>C MANE Select	ENSP00000351015.4:p.Val2295=
ENST00000356175.7:c.6822A>C	ENSP00000348498.3:p.Val2274=
ENST00000358273.8:c.6885A>C	ENSP00000351015.4:p.Val2295=
ENST00000456735.6:c.5820A>C	ENSP00000389907.2:p.Val1940=
ENST00000471572.6:c.268A>C
ENST00000579081.5:c.7021A>C	ENSP00000462408.1:n.7021A>C
ENST00000581790.5:c.64+889A>C
ENST00000584328.1:n.299A>C
NM_000267.3:c.6822A>C , LRG_214t1:c.6822A>C	NP_000258.1:p.Val2274=
NM_001042492.2:c.6885A>C , LRG_214t2:c.6885A>C	NP_001035957.1:p.Val2295=
XM_005257983.1:c.6885A>C	XP_005258040.1:p.Val2295=
XM_005257984.1:c.6822A>C	XP_005258041.1:p.Val2274=
XM_006721922.1:c.6915A>C	XP_006721985.1:p.Val2305=
XM_006721923.2:c.6876A>C	XP_006721986.1:p.Val2292=
XM_006721924.1:c.6915A>C	XP_006721987.1:p.Val2305=
XM_006721925.1:c.6852A>C	XP_006721988.1:p.Val2284=
XM_006721926.2:c.6915A>C	XP_006721989.1:p.Val2305=
XM_006721927.1:c.6915A>C	XP_006721990.1:p.Val2305=
XM_011524852.1:c.6912A>C	XP_011523154.1:p.Val2304=
XM_011524853.1:c.6876A>C	XP_011523155.1:p.Val2292=
XM_011524854.1:c.6876A>C	XP_011523156.1:p.Val2292=
XM_011524855.1:c.6876A>C	XP_011523157.1:p.Val2292=
XM_011524856.1:c.6876A>C	XP_011523158.1:p.Val2292=
XM_011524857.1:c.6915A>C	XP_011523159.1:p.Val2305=
NM_001042492.3:c.6885A>C MANE Select	NP_001035957.1:p.Val2295=