Canonical Allele Identifier: CA399014344

Gene: NF1

Linked Data

• dbSNP Id: rs2151559241
• MyVariant Identifiers: chr17:g.29665768T>C (hg19) ; chr17:g.31338750T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338750T>C , CM000679.2:g.31338750T>C	GRCh38
NC_000017.10:g.29665768T>C , CM000679.1:g.29665768T>C	GRCh37
NC_000017.9:g.26689894T>C	NCBI36
NG_009018.1:g.248774T>C , LRG_214:g.248774T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6848T>C	ENSP00000512431.1:p.Val2283Ala
ENST00000684826.1:c.1430T>C	ENSP00000509994.1:p.Val477Ala
ENST00000684998.1:n.2688T>C
ENST00000687027.1:c.1022T>C	ENSP00000508715.1:p.Val341Ala
ENST00000687863.1:n.3511T>C
ENST00000691014.1:c.6896T>C	ENSP00000510595.1:p.Val2299Ala
ENST00000693617.1:c.1430T>C	ENSP00000510031.1:p.Val477Ala
ENST00000358273.9:c.6866T>C MANE Select	ENSP00000351015.4:p.Val2289Ala
ENST00000356175.7:c.6803T>C	ENSP00000348498.3:p.Val2268Ala
ENST00000358273.8:c.6866T>C	ENSP00000351015.4:p.Val2289Ala
ENST00000456735.6:c.5801T>C	ENSP00000389907.2:p.Val1934Ala
ENST00000471572.6:c.249T>C
ENST00000579081.5:c.7002T>C	ENSP00000462408.1:n.7002T>C
ENST00000581790.5:c.64+870T>C
ENST00000584328.1:n.280T>C
NM_000267.3:c.6803T>C , LRG_214t1:c.6803T>C	NP_000258.1:p.Val2268Ala
NM_001042492.2:c.6866T>C , LRG_214t2:c.6866T>C	NP_001035957.1:p.Val2289Ala
XM_005257983.1:c.6866T>C	XP_005258040.1:p.Val2289Ala
XM_005257984.1:c.6803T>C	XP_005258041.1:p.Val2268Ala
XM_006721922.1:c.6896T>C	XP_006721985.1:p.Val2299Ala
XM_006721923.2:c.6857T>C	XP_006721986.1:p.Val2286Ala
XM_006721924.1:c.6896T>C	XP_006721987.1:p.Val2299Ala
XM_006721925.1:c.6833T>C	XP_006721988.1:p.Val2278Ala
XM_006721926.2:c.6896T>C	XP_006721989.1:p.Val2299Ala
XM_006721927.1:c.6896T>C	XP_006721990.1:p.Val2299Ala
XM_011524852.1:c.6893T>C	XP_011523154.1:p.Val2298Ala
XM_011524853.1:c.6857T>C	XP_011523155.1:p.Val2286Ala
XM_011524854.1:c.6857T>C	XP_011523156.1:p.Val2286Ala
XM_011524855.1:c.6857T>C	XP_011523157.1:p.Val2286Ala
XM_011524856.1:c.6857T>C	XP_011523158.1:p.Val2286Ala
XM_011524857.1:c.6896T>C	XP_011523159.1:p.Val2299Ala
NM_001042492.3:c.6866T>C MANE Select	NP_001035957.1:p.Val2289Ala