Canonical Allele Identifier: CA399205993

Gene: NF1

Linked Data

• dbSNP Id: rs778233452
• MyVariant Identifiers: chr17:g.29701099G>C (hg19) ; chr17:g.31374081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31374081G>C , CM000679.2:g.31374081G>C	GRCh38
NC_000017.10:g.29701099G>C , CM000679.1:g.29701099G>C	GRCh37
NC_000017.9:g.26725225G>C	NCBI36
NG_009018.1:g.284105G>C , LRG_214:g.284105G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.*81G>C	ENSP00000512431.1:n.*81G>C
ENST00000684826.1:c.3064G>C	ENSP00000509994.1:p.Gly1022Arg
ENST00000687027.1:c.2602G>C	ENSP00000508715.1:p.Gly868Arg
ENST00000689464.1:c.1550G>C
ENST00000691014.1:c.8476G>C	ENSP00000510595.1:p.Gly2826Arg
ENST00000693617.1:c.3010G>C	ENSP00000510031.1:p.Gly1004Arg
ENST00000358273.9:c.8446G>C MANE Select	ENSP00000351015.4:p.Gly2816Arg
ENST00000356175.7:c.8383G>C	ENSP00000348498.3:p.Gly2795Arg
ENST00000358273.8:c.8446G>C	ENSP00000351015.4:p.Gly2816Arg
ENST00000456735.6:c.7435G>C	ENSP00000389907.2:p.Gly2479Arg
ENST00000471572.6:c.1829G>C
ENST00000579081.5:c.8582G>C	ENSP00000462408.1:n.8582G>C
NM_000267.3:c.8383G>C , LRG_214t1:c.8383G>C	NP_000258.1:p.Gly2795Arg
NM_001042492.2:c.8446G>C , LRG_214t2:c.8446G>C	NP_001035957.1:p.Gly2816Arg
XM_005257983.1:c.8500G>C	XP_005258040.1:p.Gly2834Arg
XM_005257984.1:c.8437G>C	XP_005258041.1:p.Gly2813Arg
XM_006721922.1:c.8530G>C	XP_006721985.1:p.Gly2844Arg
XM_006721923.2:c.8491G>C	XP_006721986.1:p.Gly2831Arg
XM_006721924.1:c.8476G>C	XP_006721987.1:p.Gly2826Arg
XM_006721925.1:c.8467G>C	XP_006721988.1:p.Gly2823Arg
XM_006721926.2:c.*81G>C	XP_006721989.1:n.*81G>C
XM_011524852.1:c.8527G>C	XP_011523154.1:p.Gly2843Arg
XM_011524853.1:c.8491G>C	XP_011523155.1:p.Gly2831Arg
XM_011524854.1:c.8491G>C	XP_011523156.1:p.Gly2831Arg
XM_011524855.1:c.8491G>C	XP_011523157.1:p.Gly2831Arg
XM_011524856.1:c.8491G>C	XP_011523158.1:p.Gly2831Arg
XM_011524857.1:c.8407G>C	XP_011523159.1:p.Gly2803Arg
NM_001042492.3:c.8446G>C MANE Select	NP_001035957.1:p.Gly2816Arg