Canonical Allele Identifier: CA398990623

Gene: NF1

Linked Data

• dbSNP Id: rs2151435762
• MyVariant Identifiers: chr17:g.29560205G>C (hg19) ; chr17:g.31233187G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233187G>C , CM000679.2:g.31233187G>C	GRCh38
NC_000017.10:g.29560205G>C , CM000679.1:g.29560205G>C	GRCh37
NC_000017.9:g.26584331G>C	NCBI36
NG_009018.1:g.143211G>C , LRG_214:g.143211G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3727G>C	ENSP00000512431.1:p.Ala1243Pro
ENST00000696139.1:c.1027G>C	ENSP00000512432.1:p.Ala343Pro
ENST00000691014.1:c.3712G>C	ENSP00000510595.1:p.Ala1238Pro
ENST00000693210.1:n.408G>C
ENST00000358273.9:c.3682G>C MANE Select	ENSP00000351015.4:p.Ala1228Pro
ENST00000356175.7:c.3682G>C	ENSP00000348498.3:p.Ala1228Pro
ENST00000358273.8:c.3682G>C	ENSP00000351015.4:p.Ala1228Pro
ENST00000456735.6:c.2680G>C	ENSP00000389907.2:p.Ala894Pro
ENST00000466819.5:c.158G>C
ENST00000479614.1:c.158G>C
ENST00000493220.5:n.2218G>C
ENST00000495910.6:c.3457G>C
ENST00000579081.5:c.3784G>C	ENSP00000462408.1:p.Ala1262Pro
NM_000267.3:c.3682G>C , LRG_214t1:c.3682G>C	NP_000258.1:p.Ala1228Pro
NM_001042492.2:c.3682G>C , LRG_214t2:c.3682G>C	NP_001035957.1:p.Ala1228Pro
XM_005257983.1:c.3682G>C	XP_005258040.1:p.Ala1228Pro
XM_005257984.1:c.3682G>C	XP_005258041.1:p.Ala1228Pro
XM_006721922.1:c.3712G>C	XP_006721985.1:p.Ala1238Pro
XM_006721923.2:c.3673G>C	XP_006721986.1:p.Ala1225Pro
XM_006721924.1:c.3712G>C	XP_006721987.1:p.Ala1238Pro
XM_006721925.1:c.3712G>C	XP_006721988.1:p.Ala1238Pro
XM_006721926.2:c.3712G>C	XP_006721989.1:p.Ala1238Pro
XM_006721927.1:c.3712G>C	XP_006721990.1:p.Ala1238Pro
XM_006721928.2:c.3712G>C	XP_006721991.1:p.Ala1238Pro
XM_011524852.1:c.3709G>C	XP_011523154.1:p.Ala1237Pro
XM_011524853.1:c.3673G>C	XP_011523155.1:p.Ala1225Pro
XM_011524854.1:c.3673G>C	XP_011523156.1:p.Ala1225Pro
XM_011524855.1:c.3673G>C	XP_011523157.1:p.Ala1225Pro
XM_011524856.1:c.3673G>C	XP_011523158.1:p.Ala1225Pro
XM_011524857.1:c.3712G>C	XP_011523159.1:p.Ala1238Pro
NM_001042492.3:c.3682G>C MANE Select	NP_001035957.1:p.Ala1228Pro