Canonical Allele Identifier: CA399001364

Gene: NF1

Linked Data

• ClinVar Variation Id: 547651
• ClinVar RCV Id: RCV000660066
• dbSNP Id: rs1555619416
• MyVariant Identifiers: chr17:g.29592343T>A (hg19) ; chr17:g.31265325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265325T>A , CM000679.2:g.31265325T>A	GRCh38
NC_000017.10:g.29592343T>A , CM000679.1:g.29592343T>A	GRCh37
NC_000017.9:g.26616469T>A	NCBI36
NG_009018.1:g.175349T>A , LRG_214:g.175349T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.623T>A	ENSP00000492721.2:n.623T>A
ENST00000696138.1:c.4803T>A	ENSP00000512431.1:p.Tyr1601Ter
ENST00000696140.1:n.927T>A
ENST00000696141.1:c.812T>A
ENST00000687863.1:n.1466T>A
ENST00000691014.1:c.4851T>A	ENSP00000510595.1:p.Tyr1617Ter
ENST00000358273.9:c.4821T>A MANE Select	ENSP00000351015.4:p.Tyr1607Ter
ENST00000356175.7:c.4758T>A	ENSP00000348498.3:p.Tyr1586Ter
ENST00000358273.8:c.4821T>A	ENSP00000351015.4:p.Tyr1607Ter
ENST00000456735.6:c.3756T>A	ENSP00000389907.2:p.Tyr1252Ter
ENST00000493220.5:n.3294T>A
ENST00000579081.5:c.4860T>A	ENSP00000462408.1:p.Tyr1620Ter
NM_000267.3:c.4758T>A , LRG_214t1:c.4758T>A	NP_000258.1:p.Tyr1586Ter
NM_001042492.2:c.4821T>A , LRG_214t2:c.4821T>A	NP_001035957.1:p.Tyr1607Ter
XM_005257983.1:c.4821T>A	XP_005258040.1:p.Tyr1607Ter
XM_005257984.1:c.4758T>A	XP_005258041.1:p.Tyr1586Ter
XM_006721922.1:c.4851T>A	XP_006721985.1:p.Tyr1617Ter
XM_006721923.2:c.4812T>A	XP_006721986.1:p.Tyr1604Ter
XM_006721924.1:c.4851T>A	XP_006721987.1:p.Tyr1617Ter
XM_006721925.1:c.4788T>A	XP_006721988.1:p.Tyr1596Ter
XM_006721926.2:c.4851T>A	XP_006721989.1:p.Tyr1617Ter
XM_006721927.1:c.4851T>A	XP_006721990.1:p.Tyr1617Ter
XM_006721928.2:c.4851T>A	XP_006721991.1:p.Tyr1617Ter
XM_011524852.1:c.4848T>A	XP_011523154.1:p.Tyr1616Ter
XM_011524853.1:c.4812T>A	XP_011523155.1:p.Tyr1604Ter
XM_011524854.1:c.4812T>A	XP_011523156.1:p.Tyr1604Ter
XM_011524855.1:c.4812T>A	XP_011523157.1:p.Tyr1604Ter
XM_011524856.1:c.4812T>A	XP_011523158.1:p.Tyr1604Ter
XM_011524857.1:c.4851T>A	XP_011523159.1:p.Tyr1617Ter
NM_001042492.3:c.4821T>A MANE Select	NP_001035957.1:p.Tyr1607Ter