Canonical Allele Identifier: CA399000130

Gene: NF1

Linked Data

• dbSNP Id: rs2151466206
• MyVariant Identifiers: chr17:g.29588739G>C (hg19) ; chr17:g.31261721G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261721G>C , CM000679.2:g.31261721G>C	GRCh38
NC_000017.10:g.29588739G>C , CM000679.1:g.29588739G>C	GRCh37
NC_000017.9:g.26612865G>C	NCBI36
NG_009018.1:g.171745G>C , LRG_214:g.171745G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.390G>C	ENSP00000492721.2:p.Lys130Asn
ENST00000696138.1:c.4570G>C	ENSP00000512431.1:p.Ala1524Pro
ENST00000696140.1:n.694G>C
ENST00000696141.1:c.579G>C
ENST00000687863.1:n.1233G>C
ENST00000691014.1:c.4618G>C	ENSP00000510595.1:p.Ala1540Pro
ENST00000358273.9:c.4588G>C MANE Select	ENSP00000351015.4:p.Ala1530Pro
ENST00000356175.7:c.4525G>C	ENSP00000348498.3:p.Ala1509Pro
ENST00000358273.8:c.4588G>C	ENSP00000351015.4:p.Ala1530Pro
ENST00000456735.6:c.3523G>C	ENSP00000389907.2:p.Ala1175Pro
ENST00000466819.5:c.1104G>C
ENST00000479614.1:c.1041G>C
ENST00000493220.5:n.3061G>C
ENST00000579081.5:c.4627G>C	ENSP00000462408.1:p.Ala1543Pro
NM_000267.3:c.4525G>C , LRG_214t1:c.4525G>C	NP_000258.1:p.Ala1509Pro
NM_001042492.2:c.4588G>C , LRG_214t2:c.4588G>C	NP_001035957.1:p.Ala1530Pro
XM_005257983.1:c.4588G>C	XP_005258040.1:p.Ala1530Pro
XM_005257984.1:c.4525G>C	XP_005258041.1:p.Ala1509Pro
XM_006721922.1:c.4618G>C	XP_006721985.1:p.Ala1540Pro
XM_006721923.2:c.4579G>C	XP_006721986.1:p.Ala1527Pro
XM_006721924.1:c.4618G>C	XP_006721987.1:p.Ala1540Pro
XM_006721925.1:c.4555G>C	XP_006721988.1:p.Ala1519Pro
XM_006721926.2:c.4618G>C	XP_006721989.1:p.Ala1540Pro
XM_006721927.1:c.4618G>C	XP_006721990.1:p.Ala1540Pro
XM_006721928.2:c.4618G>C	XP_006721991.1:p.Ala1540Pro
XM_011524852.1:c.4615G>C	XP_011523154.1:p.Ala1539Pro
XM_011524853.1:c.4579G>C	XP_011523155.1:p.Ala1527Pro
XM_011524854.1:c.4579G>C	XP_011523156.1:p.Ala1527Pro
XM_011524855.1:c.4579G>C	XP_011523157.1:p.Ala1527Pro
XM_011524856.1:c.4579G>C	XP_011523158.1:p.Ala1527Pro
XM_011524857.1:c.4618G>C	XP_011523159.1:p.Ala1540Pro
NM_001042492.3:c.4588G>C MANE Select	NP_001035957.1:p.Ala1530Pro