Canonical Allele Identifier: CA399014013

Gene: NF1

Linked Data

• ClinVar Variation Id: 1072469
• ClinVar RCV Id: RCV001385197
• dbSNP Id: rs2151558071
• MyVariant Identifiers: chr17:g.29665058T>G (hg19) ; chr17:g.31338040T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338040T>G , CM000679.2:g.31338040T>G	GRCh38
NC_000017.10:g.29665058T>G , CM000679.1:g.29665058T>G	GRCh37
NC_000017.9:g.26689184T>G	NCBI36
NG_009018.1:g.248064T>G , LRG_214:g.248064T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6702T>G	ENSP00000512431.1:p.Tyr2234Ter
ENST00000684826.1:c.1284T>G	ENSP00000509994.1:p.Tyr428Ter
ENST00000684998.1:n.1978T>G
ENST00000687027.1:c.876T>G	ENSP00000508715.1:p.Tyr292Ter
ENST00000687863.1:n.3365T>G
ENST00000691014.1:c.6750T>G	ENSP00000510595.1:p.Tyr2250Ter
ENST00000693617.1:c.1284T>G	ENSP00000510031.1:p.Tyr428Ter
ENST00000358273.9:c.6720T>G MANE Select	ENSP00000351015.4:p.Tyr2240Ter
ENST00000356175.7:c.6657T>G	ENSP00000348498.3:p.Tyr2219Ter
ENST00000358273.8:c.6720T>G	ENSP00000351015.4:p.Tyr2240Ter
ENST00000456735.6:c.5655T>G	ENSP00000389907.2:p.Tyr1885Ter
ENST00000471572.6:c.103T>G
ENST00000579081.5:c.6856T>G	ENSP00000462408.1:n.6856T>G
ENST00000581790.5:c.64+160T>G
ENST00000584328.1:n.134T>G
NM_000267.3:c.6657T>G , LRG_214t1:c.6657T>G	NP_000258.1:p.Tyr2219Ter
NM_001042492.2:c.6720T>G , LRG_214t2:c.6720T>G	NP_001035957.1:p.Tyr2240Ter
XM_005257983.1:c.6720T>G	XP_005258040.1:p.Tyr2240Ter
XM_005257984.1:c.6657T>G	XP_005258041.1:p.Tyr2219Ter
XM_006721922.1:c.6750T>G	XP_006721985.1:p.Tyr2250Ter
XM_006721923.2:c.6711T>G	XP_006721986.1:p.Tyr2237Ter
XM_006721924.1:c.6750T>G	XP_006721987.1:p.Tyr2250Ter
XM_006721925.1:c.6687T>G	XP_006721988.1:p.Tyr2229Ter
XM_006721926.2:c.6750T>G	XP_006721989.1:p.Tyr2250Ter
XM_006721927.1:c.6750T>G	XP_006721990.1:p.Tyr2250Ter
XM_011524852.1:c.6747T>G	XP_011523154.1:p.Tyr2249Ter
XM_011524853.1:c.6711T>G	XP_011523155.1:p.Tyr2237Ter
XM_011524854.1:c.6711T>G	XP_011523156.1:p.Tyr2237Ter
XM_011524855.1:c.6711T>G	XP_011523157.1:p.Tyr2237Ter
XM_011524856.1:c.6711T>G	XP_011523158.1:p.Tyr2237Ter
XM_011524857.1:c.6750T>G	XP_011523159.1:p.Tyr2250Ter
NM_001042492.3:c.6720T>G MANE Select	NP_001035957.1:p.Tyr2240Ter