Canonical Allele Identifier: CA399005205

Gene: NF1

Linked Data

• dbSNP Id: rs1567846698
• MyVariant Identifiers: chr17:g.29552162G>C (hg19) ; chr17:g.31225144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31225144G>C , CM000679.2:g.31225144G>C	GRCh38
NC_000017.10:g.29552162G>C , CM000679.1:g.29552162G>C	GRCh37
NC_000017.9:g.26576288G>C	NCBI36
NG_009018.1:g.135168G>C , LRG_214:g.135168G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1940G>C	ENSP00000512431.1:p.Cys647Ser
ENST00000691014.1:c.1925G>C	ENSP00000510595.1:p.Cys642Ser
ENST00000358273.9:c.1895G>C MANE Select	ENSP00000351015.4:p.Cys632Ser
ENST00000356175.7:c.1895G>C	ENSP00000348498.3:p.Cys632Ser
ENST00000358273.8:c.1895G>C	ENSP00000351015.4:p.Cys632Ser
ENST00000456735.6:c.893G>C	ENSP00000389907.2:p.Cys298Ser
ENST00000493220.5:n.62G>C
ENST00000495910.6:c.1670G>C
ENST00000579081.5:c.1997G>C	ENSP00000462408.1:p.Cys666Ser
NM_000267.3:c.1895G>C , LRG_214t1:c.1895G>C	NP_000258.1:p.Cys632Ser
NM_001042492.2:c.1895G>C , LRG_214t2:c.1895G>C	NP_001035957.1:p.Cys632Ser
XM_005257983.1:c.1895G>C	XP_005258040.1:p.Cys632Ser
XM_005257984.1:c.1895G>C	XP_005258041.1:p.Cys632Ser
XM_006721922.1:c.1925G>C	XP_006721985.1:p.Cys642Ser
XM_006721923.2:c.1886G>C	XP_006721986.1:p.Cys629Ser
XM_006721924.1:c.1925G>C	XP_006721987.1:p.Cys642Ser
XM_006721925.1:c.1925G>C	XP_006721988.1:p.Cys642Ser
XM_006721926.2:c.1925G>C	XP_006721989.1:p.Cys642Ser
XM_006721927.1:c.1925G>C	XP_006721990.1:p.Cys642Ser
XM_006721928.2:c.1925G>C	XP_006721991.1:p.Cys642Ser
XM_011524852.1:c.1922G>C	XP_011523154.1:p.Cys641Ser
XM_011524853.1:c.1886G>C	XP_011523155.1:p.Cys629Ser
XM_011524854.1:c.1886G>C	XP_011523156.1:p.Cys629Ser
XM_011524855.1:c.1886G>C	XP_011523157.1:p.Cys629Ser
XM_011524856.1:c.1886G>C	XP_011523158.1:p.Cys629Ser
XM_011524857.1:c.1925G>C	XP_011523159.1:p.Cys642Ser
NM_001042492.3:c.1895G>C MANE Select	NP_001035957.1:p.Cys632Ser