Canonical Allele Identifier: CA399017543

Gene: NF1

Linked Data

• ClinVar Variation Id: 1356971
• ClinVar RCV Id: RCV001870368
• dbSNP Id: rs2151577076
• MyVariant Identifiers: chr17:g.29679328T>C (hg19) ; chr17:g.31352310T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31352310T>C , CM000679.2:g.31352310T>C	GRCh38
NC_000017.10:g.29679328T>C , CM000679.1:g.29679328T>C	GRCh37
NC_000017.9:g.26703454T>C	NCBI36
NG_009018.1:g.262334T>C , LRG_214:g.262334T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7493T>C	ENSP00000512431.1:p.Leu2498Pro
ENST00000684826.1:c.2075T>C	ENSP00000509994.1:p.Leu692Pro
ENST00000687027.1:c.1667T>C	ENSP00000508715.1:p.Leu556Pro
ENST00000687863.1:n.4156T>C
ENST00000689464.1:c.561T>C
ENST00000691014.1:c.7541T>C	ENSP00000510595.1:p.Leu2514Pro
ENST00000693617.1:c.2075T>C	ENSP00000510031.1:p.Leu692Pro
ENST00000358273.9:c.7511T>C MANE Select	ENSP00000351015.4:p.Leu2504Pro
ENST00000356175.7:c.7448T>C	ENSP00000348498.3:p.Leu2483Pro
ENST00000358273.8:c.7511T>C	ENSP00000351015.4:p.Leu2504Pro
ENST00000456735.6:c.6446T>C	ENSP00000389907.2:p.Leu2149Pro
ENST00000471572.6:c.894T>C
ENST00000579081.5:c.7647T>C	ENSP00000462408.1:n.7647T>C
ENST00000581790.5:c.600+1992T>C
NM_000267.3:c.7448T>C , LRG_214t1:c.7448T>C	NP_000258.1:p.Leu2483Pro
NM_001042492.2:c.7511T>C , LRG_214t2:c.7511T>C	NP_001035957.1:p.Leu2504Pro
XM_005257983.1:c.7511T>C	XP_005258040.1:p.Leu2504Pro
XM_005257984.1:c.7448T>C	XP_005258041.1:p.Leu2483Pro
XM_006721922.1:c.7541T>C	XP_006721985.1:p.Leu2514Pro
XM_006721923.2:c.7502T>C	XP_006721986.1:p.Leu2501Pro
XM_006721924.1:c.7541T>C	XP_006721987.1:p.Leu2514Pro
XM_006721925.1:c.7478T>C	XP_006721988.1:p.Leu2493Pro
XM_006721926.2:c.7541T>C	XP_006721989.1:p.Leu2514Pro
XM_006721927.1:c.7541T>C	XP_006721990.1:p.Leu2514Pro
XM_011524852.1:c.7538T>C	XP_011523154.1:p.Leu2513Pro
XM_011524853.1:c.7502T>C	XP_011523155.1:p.Leu2501Pro
XM_011524854.1:c.7502T>C	XP_011523156.1:p.Leu2501Pro
XM_011524855.1:c.7502T>C	XP_011523157.1:p.Leu2501Pro
XM_011524856.1:c.7502T>C	XP_011523158.1:p.Leu2501Pro
XM_011524857.1:c.7541T>C	XP_011523159.1:p.Leu2514Pro
NM_001042492.3:c.7511T>C MANE Select	NP_001035957.1:p.Leu2504Pro