Canonical Allele Identifier: CA399015522

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29670037A>C (hg19) ; chr17:g.31343019A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343019A>C , CM000679.2:g.31343019A>C	GRCh38
NC_000017.10:g.29670037A>C , CM000679.1:g.29670037A>C	GRCh37
NC_000017.9:g.26694163A>C	NCBI36
NG_009018.1:g.253043A>C , LRG_214:g.253043A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7055A>C	ENSP00000512431.1:p.Glu2352Ala
ENST00000684826.1:c.1637A>C	ENSP00000509994.1:p.Glu546Ala
ENST00000687027.1:c.1229A>C	ENSP00000508715.1:p.Glu410Ala
ENST00000687863.1:n.3718A>C
ENST00000689464.1:c.12A>C
ENST00000691014.1:c.7103A>C	ENSP00000510595.1:p.Glu2368Ala
ENST00000693617.1:c.1637A>C	ENSP00000510031.1:p.Glu546Ala
ENST00000358273.9:c.7073A>C MANE Select	ENSP00000351015.4:p.Glu2358Ala
ENST00000356175.7:c.7010A>C	ENSP00000348498.3:p.Glu2337Ala
ENST00000358273.8:c.7073A>C	ENSP00000351015.4:p.Glu2358Ala
ENST00000456735.6:c.6008A>C	ENSP00000389907.2:p.Glu2003Ala
ENST00000471572.6:c.456A>C
ENST00000579081.5:c.7209A>C	ENSP00000462408.1:n.7209A>C
ENST00000581790.5:c.216A>C
ENST00000582892.1:n.315A>C
ENST00000584328.1:n.487A>C
NM_000267.3:c.7010A>C , LRG_214t1:c.7010A>C	NP_000258.1:p.Glu2337Ala
NM_001042492.2:c.7073A>C , LRG_214t2:c.7073A>C	NP_001035957.1:p.Glu2358Ala
XM_005257983.1:c.7073A>C	XP_005258040.1:p.Glu2358Ala
XM_005257984.1:c.7010A>C	XP_005258041.1:p.Glu2337Ala
XM_006721922.1:c.7103A>C	XP_006721985.1:p.Glu2368Ala
XM_006721923.2:c.7064A>C	XP_006721986.1:p.Glu2355Ala
XM_006721924.1:c.7103A>C	XP_006721987.1:p.Glu2368Ala
XM_006721925.1:c.7040A>C	XP_006721988.1:p.Glu2347Ala
XM_006721926.2:c.7103A>C	XP_006721989.1:p.Glu2368Ala
XM_006721927.1:c.7103A>C	XP_006721990.1:p.Glu2368Ala
XM_011524852.1:c.7100A>C	XP_011523154.1:p.Glu2367Ala
XM_011524853.1:c.7064A>C	XP_011523155.1:p.Glu2355Ala
XM_011524854.1:c.7064A>C	XP_011523156.1:p.Glu2355Ala
XM_011524855.1:c.7064A>C	XP_011523157.1:p.Glu2355Ala
XM_011524856.1:c.7064A>C	XP_011523158.1:p.Glu2355Ala
XM_011524857.1:c.7103A>C	XP_011523159.1:p.Glu2368Ala
NM_001042492.3:c.7073A>C MANE Select	NP_001035957.1:p.Glu2358Ala