Canonical Allele Identifier: CA499233383

Gene: NF1

Linked Data

• dbSNP Id: rs2151461759
• MyVariant Identifiers: chr17:g.29585367T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258349T>C , CM000679.2:g.31258349T>C	GRCh38
NC_000017.10:g.29585367T>C , CM000679.1:g.29585367T>C	GRCh37
NC_000017.9:g.26609493T>C	NCBI36
NG_009018.1:g.168373T>C , LRG_214:g.168373T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4161T>C	ENSP00000512431.1:p.Val1387=
ENST00000696140.1:n.285T>C
ENST00000696141.1:c.170T>C
ENST00000687863.1:n.824T>C
ENST00000691014.1:c.4209T>C	ENSP00000510595.1:p.Val1403=
ENST00000691649.1:n.151T>C
ENST00000358273.9:c.4179T>C MANE Select	ENSP00000351015.4:p.Val1393=
ENST00000356175.7:c.4116T>C	ENSP00000348498.3:p.Val1372=
ENST00000358273.8:c.4179T>C	ENSP00000351015.4:p.Val1393=
ENST00000456735.6:c.3114T>C	ENSP00000389907.2:p.Val1038=
ENST00000466819.5:c.695T>C
ENST00000479614.1:c.632T>C
ENST00000493220.5:n.2652T>C
ENST00000579081.5:c.4218T>C	ENSP00000462408.1:p.Val1406=
NM_000267.3:c.4116T>C , LRG_214t1:c.4116T>C	NP_000258.1:p.Val1372=
NM_001042492.2:c.4179T>C , LRG_214t2:c.4179T>C	NP_001035957.1:p.Val1393=
XM_005257983.1:c.4179T>C	XP_005258040.1:p.Val1393=
XM_005257984.1:c.4116T>C	XP_005258041.1:p.Val1372=
XM_006721922.1:c.4209T>C	XP_006721985.1:p.Val1403=
XM_006721923.2:c.4170T>C	XP_006721986.1:p.Val1390=
XM_006721924.1:c.4209T>C	XP_006721987.1:p.Val1403=
XM_006721925.1:c.4146T>C	XP_006721988.1:p.Val1382=
XM_006721926.2:c.4209T>C	XP_006721989.1:p.Val1403=
XM_006721927.1:c.4209T>C	XP_006721990.1:p.Val1403=
XM_006721928.2:c.4209T>C	XP_006721991.1:p.Val1403=
XM_011524852.1:c.4206T>C	XP_011523154.1:p.Val1402=
XM_011524853.1:c.4170T>C	XP_011523155.1:p.Val1390=
XM_011524854.1:c.4170T>C	XP_011523156.1:p.Val1390=
XM_011524855.1:c.4170T>C	XP_011523157.1:p.Val1390=
XM_011524856.1:c.4170T>C	XP_011523158.1:p.Val1390=
XM_011524857.1:c.4209T>C	XP_011523159.1:p.Val1403=
NM_001042492.3:c.4179T>C MANE Select	NP_001035957.1:p.Val1393=