Canonical Allele Identifier: CA190596

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229418A>C , CM000679.2:g.31229418A>C	GRCh38
NC_000017.10:g.29556436A>C , CM000679.1:g.29556436A>C	GRCh37
NC_000017.9:g.26580562A>C	NCBI36
NG_009018.1:g.139442A>C , LRG_214:g.139442A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.2803A>C MANE Select	NP_001035957.1:p.Asn935His
ENST00000358273.9:c.2803A>C MANE Select	ENSP00000351015.4:p.Asn935His
NM_000267.3:c.2803A>C , LRG_214t1:c.2803A>C	NP_000258.1:p.Asn935His
NM_001042492.2:c.2803A>C , LRG_214t2:c.2803A>C	NP_001035957.1:p.Asn935His
ENST00000356175.7:c.2803A>C	ENSP00000348498.3:p.Asn935His
ENST00000358273.8:c.2803A>C	ENSP00000351015.4:p.Asn935His
ENST00000456735.6:c.1801A>C	ENSP00000389907.2:p.Asn601His
ENST00000493220.5:n.970A>C
ENST00000495910.6:c.2578A>C
ENST00000579081.5:c.2905A>C	ENSP00000462408.1:p.Asn969His
ENST00000691014.1:c.2833A>C	ENSP00000510595.1:p.Asn945His
ENST00000696138.1:c.2848A>C	ENSP00000512431.1:p.Asn950His
ENST00000696139.1:c.148A>C	ENSP00000512432.1:p.Asn50His
XM_005257983.1:c.2803A>C	XP_005258040.1:p.Asn935His
XM_005257984.1:c.2803A>C	XP_005258041.1:p.Asn935His
XM_006721922.1:c.2833A>C	XP_006721985.1:p.Asn945His
XM_006721923.2:c.2794A>C	XP_006721986.1:p.Asn932His
XM_006721924.1:c.2833A>C	XP_006721987.1:p.Asn945His
XM_006721925.1:c.2833A>C	XP_006721988.1:p.Asn945His
XM_006721926.2:c.2833A>C	XP_006721989.1:p.Asn945His
XM_006721927.1:c.2833A>C	XP_006721990.1:p.Asn945His
XM_006721928.2:c.2833A>C	XP_006721991.1:p.Asn945His
XM_011524852.1:c.2830A>C	XP_011523154.1:p.Asn944His
XM_011524853.1:c.2794A>C	XP_011523155.1:p.Asn932His
XM_011524854.1:c.2794A>C	XP_011523156.1:p.Asn932His
XM_011524855.1:c.2794A>C	XP_011523157.1:p.Asn932His
XM_011524856.1:c.2794A>C	XP_011523158.1:p.Asn932His
XM_011524857.1:c.2833A>C	XP_011523159.1:p.Asn945His