Canonical Allele Identifier: CA399015532

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29670040T>C (hg19) ; chr17:g.31343022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343022T>C , CM000679.2:g.31343022T>C	GRCh38
NC_000017.10:g.29670040T>C , CM000679.1:g.29670040T>C	GRCh37
NC_000017.9:g.26694166T>C	NCBI36
NG_009018.1:g.253046T>C , LRG_214:g.253046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7058T>C	ENSP00000512431.1:p.Val2353Ala
ENST00000684826.1:c.1640T>C	ENSP00000509994.1:p.Val547Ala
ENST00000687027.1:c.1232T>C	ENSP00000508715.1:p.Val411Ala
ENST00000687863.1:n.3721T>C
ENST00000689464.1:c.15T>C
ENST00000691014.1:c.7106T>C	ENSP00000510595.1:p.Val2369Ala
ENST00000693617.1:c.1640T>C	ENSP00000510031.1:p.Val547Ala
ENST00000358273.9:c.7076T>C MANE Select	ENSP00000351015.4:p.Val2359Ala
ENST00000356175.7:c.7013T>C	ENSP00000348498.3:p.Val2338Ala
ENST00000358273.8:c.7076T>C	ENSP00000351015.4:p.Val2359Ala
ENST00000456735.6:c.6011T>C	ENSP00000389907.2:p.Val2004Ala
ENST00000471572.6:c.459T>C
ENST00000579081.5:c.7212T>C	ENSP00000462408.1:n.7212T>C
ENST00000581790.5:c.219T>C
ENST00000582892.1:n.318T>C
ENST00000584328.1:n.490T>C
NM_000267.3:c.7013T>C , LRG_214t1:c.7013T>C	NP_000258.1:p.Val2338Ala
NM_001042492.2:c.7076T>C , LRG_214t2:c.7076T>C	NP_001035957.1:p.Val2359Ala
XM_005257983.1:c.7076T>C	XP_005258040.1:p.Val2359Ala
XM_005257984.1:c.7013T>C	XP_005258041.1:p.Val2338Ala
XM_006721922.1:c.7106T>C	XP_006721985.1:p.Val2369Ala
XM_006721923.2:c.7067T>C	XP_006721986.1:p.Val2356Ala
XM_006721924.1:c.7106T>C	XP_006721987.1:p.Val2369Ala
XM_006721925.1:c.7043T>C	XP_006721988.1:p.Val2348Ala
XM_006721926.2:c.7106T>C	XP_006721989.1:p.Val2369Ala
XM_006721927.1:c.7106T>C	XP_006721990.1:p.Val2369Ala
XM_011524852.1:c.7103T>C	XP_011523154.1:p.Val2368Ala
XM_011524853.1:c.7067T>C	XP_011523155.1:p.Val2356Ala
XM_011524854.1:c.7067T>C	XP_011523156.1:p.Val2356Ala
XM_011524855.1:c.7067T>C	XP_011523157.1:p.Val2356Ala
XM_011524856.1:c.7067T>C	XP_011523158.1:p.Val2356Ala
XM_011524857.1:c.7106T>C	XP_011523159.1:p.Val2369Ala
NM_001042492.3:c.7076T>C MANE Select	NP_001035957.1:p.Val2359Ala