Canonical Allele Identifier: CA399014301

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29665750A>C (hg19) ; chr17:g.31338732A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338732A>C , CM000679.2:g.31338732A>C	GRCh38
NC_000017.10:g.29665750A>C , CM000679.1:g.29665750A>C	GRCh37
NC_000017.9:g.26689876A>C	NCBI36
NG_009018.1:g.248756A>C , LRG_214:g.248756A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6830A>C	ENSP00000512431.1:p.Asp2277Ala
ENST00000684826.1:c.1412A>C	ENSP00000509994.1:p.Asp471Ala
ENST00000684998.1:n.2670A>C
ENST00000687027.1:c.1004A>C	ENSP00000508715.1:p.Asp335Ala
ENST00000687863.1:n.3493A>C
ENST00000691014.1:c.6878A>C	ENSP00000510595.1:p.Asp2293Ala
ENST00000693617.1:c.1412A>C	ENSP00000510031.1:p.Asp471Ala
ENST00000358273.9:c.6848A>C MANE Select	ENSP00000351015.4:p.Asp2283Ala
ENST00000356175.7:c.6785A>C	ENSP00000348498.3:p.Asp2262Ala
ENST00000358273.8:c.6848A>C	ENSP00000351015.4:p.Asp2283Ala
ENST00000456735.6:c.5783A>C	ENSP00000389907.2:p.Asp1928Ala
ENST00000471572.6:c.231A>C
ENST00000579081.5:c.6984A>C	ENSP00000462408.1:n.6984A>C
ENST00000581790.5:c.64+852A>C
ENST00000584328.1:n.262A>C
NM_000267.3:c.6785A>C , LRG_214t1:c.6785A>C	NP_000258.1:p.Asp2262Ala
NM_001042492.2:c.6848A>C , LRG_214t2:c.6848A>C	NP_001035957.1:p.Asp2283Ala
XM_005257983.1:c.6848A>C	XP_005258040.1:p.Asp2283Ala
XM_005257984.1:c.6785A>C	XP_005258041.1:p.Asp2262Ala
XM_006721922.1:c.6878A>C	XP_006721985.1:p.Asp2293Ala
XM_006721923.2:c.6839A>C	XP_006721986.1:p.Asp2280Ala
XM_006721924.1:c.6878A>C	XP_006721987.1:p.Asp2293Ala
XM_006721925.1:c.6815A>C	XP_006721988.1:p.Asp2272Ala
XM_006721926.2:c.6878A>C	XP_006721989.1:p.Asp2293Ala
XM_006721927.1:c.6878A>C	XP_006721990.1:p.Asp2293Ala
XM_011524852.1:c.6875A>C	XP_011523154.1:p.Asp2292Ala
XM_011524853.1:c.6839A>C	XP_011523155.1:p.Asp2280Ala
XM_011524854.1:c.6839A>C	XP_011523156.1:p.Asp2280Ala
XM_011524855.1:c.6839A>C	XP_011523157.1:p.Asp2280Ala
XM_011524856.1:c.6839A>C	XP_011523158.1:p.Asp2280Ala
XM_011524857.1:c.6878A>C	XP_011523159.1:p.Asp2293Ala
NM_001042492.3:c.6848A>C MANE Select	NP_001035957.1:p.Asp2283Ala