Canonical Allele Identifier: CA398990425

Gene: NF1

Linked Data

• ClinVar Variation Id: 2137980
• ClinVar RCV Id: RCV003041294 ; RCV003111616
• MyVariant Identifiers: chr17:g.29560167T>A (hg19) ; chr17:g.31233149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233149T>A , CM000679.2:g.31233149T>A	GRCh38
NC_000017.10:g.29560167T>A , CM000679.1:g.29560167T>A	GRCh37
NC_000017.9:g.26584293T>A	NCBI36
NG_009018.1:g.143173T>A , LRG_214:g.143173T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3689T>A	ENSP00000512431.1:p.Met1230Lys
ENST00000696139.1:c.989T>A	ENSP00000512432.1:p.Met330Lys
ENST00000691014.1:c.3674T>A	ENSP00000510595.1:p.Met1225Lys
ENST00000693210.1:n.370T>A
ENST00000358273.9:c.3644T>A MANE Select	ENSP00000351015.4:p.Met1215Lys
ENST00000356175.7:c.3644T>A	ENSP00000348498.3:p.Met1215Lys
ENST00000358273.8:c.3644T>A	ENSP00000351015.4:p.Met1215Lys
ENST00000456735.6:c.2642T>A	ENSP00000389907.2:p.Met881Lys
ENST00000466819.5:c.120T>A
ENST00000479614.1:c.120T>A
ENST00000493220.5:n.2180T>A
ENST00000495910.6:c.3419T>A
ENST00000579081.5:c.3746T>A	ENSP00000462408.1:p.Met1249Lys
NM_000267.3:c.3644T>A , LRG_214t1:c.3644T>A	NP_000258.1:p.Met1215Lys
NM_001042492.2:c.3644T>A , LRG_214t2:c.3644T>A	NP_001035957.1:p.Met1215Lys
XM_005257983.1:c.3644T>A	XP_005258040.1:p.Met1215Lys
XM_005257984.1:c.3644T>A	XP_005258041.1:p.Met1215Lys
XM_006721922.1:c.3674T>A	XP_006721985.1:p.Met1225Lys
XM_006721923.2:c.3635T>A	XP_006721986.1:p.Met1212Lys
XM_006721924.1:c.3674T>A	XP_006721987.1:p.Met1225Lys
XM_006721925.1:c.3674T>A	XP_006721988.1:p.Met1225Lys
XM_006721926.2:c.3674T>A	XP_006721989.1:p.Met1225Lys
XM_006721927.1:c.3674T>A	XP_006721990.1:p.Met1225Lys
XM_006721928.2:c.3674T>A	XP_006721991.1:p.Met1225Lys
XM_011524852.1:c.3671T>A	XP_011523154.1:p.Met1224Lys
XM_011524853.1:c.3635T>A	XP_011523155.1:p.Met1212Lys
XM_011524854.1:c.3635T>A	XP_011523156.1:p.Met1212Lys
XM_011524855.1:c.3635T>A	XP_011523157.1:p.Met1212Lys
XM_011524856.1:c.3635T>A	XP_011523158.1:p.Met1212Lys
XM_011524857.1:c.3674T>A	XP_011523159.1:p.Met1225Lys
NM_001042492.3:c.3644T>A MANE Select	NP_001035957.1:p.Met1215Lys