Canonical Allele Identifier: CA197518

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31350229A>T , CM000679.2:g.31350229A>T	GRCh38
NC_000017.10:g.29677247A>T , CM000679.1:g.29677247A>T	GRCh37
NC_000017.9:g.26701373A>T	NCBI36
NG_009018.1:g.260253A>T , LRG_214:g.260253A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.7368A>T MANE Select	NP_001035957.1:p.Lys2456Asn
ENST00000358273.9:c.7368A>T MANE Select	ENSP00000351015.4:p.Lys2456Asn
NM_000267.3:c.7305A>T , LRG_214t1:c.7305A>T	NP_000258.1:p.Lys2435Asn
NM_001042492.2:c.7368A>T , LRG_214t2:c.7368A>T	NP_001035957.1:p.Lys2456Asn
ENST00000356175.7:c.7305A>T	ENSP00000348498.3:p.Lys2435Asn
ENST00000358273.8:c.7368A>T	ENSP00000351015.4:p.Lys2456Asn
ENST00000456735.6:c.6303A>T	ENSP00000389907.2:p.Lys2101Asn
ENST00000471572.6:c.751A>T
ENST00000579081.5:c.7504A>T	ENSP00000462408.1:n.7504A>T
ENST00000581790.5:c.511A>T
ENST00000684826.1:c.1932A>T	ENSP00000509994.1:p.Lys644Asn
ENST00000687027.1:c.1524A>T	ENSP00000508715.1:p.Lys508Asn
ENST00000687863.1:n.4013A>T
ENST00000689464.1:c.418A>T
ENST00000691014.1:c.7398A>T	ENSP00000510595.1:p.Lys2466Asn
ENST00000693617.1:c.1932A>T	ENSP00000510031.1:p.Lys644Asn
ENST00000696138.1:c.7350A>T	ENSP00000512431.1:p.Lys2450Asn
XM_005257983.1:c.7368A>T	XP_005258040.1:p.Lys2456Asn
XM_005257984.1:c.7305A>T	XP_005258041.1:p.Lys2435Asn
XM_006721922.1:c.7398A>T	XP_006721985.1:p.Lys2466Asn
XM_006721923.2:c.7359A>T	XP_006721986.1:p.Lys2453Asn
XM_006721924.1:c.7398A>T	XP_006721987.1:p.Lys2466Asn
XM_006721925.1:c.7335A>T	XP_006721988.1:p.Lys2445Asn
XM_006721926.2:c.7398A>T	XP_006721989.1:p.Lys2466Asn
XM_006721927.1:c.7398A>T	XP_006721990.1:p.Lys2466Asn
XM_011524852.1:c.7395A>T	XP_011523154.1:p.Lys2465Asn
XM_011524853.1:c.7359A>T	XP_011523155.1:p.Lys2453Asn
XM_011524854.1:c.7359A>T	XP_011523156.1:p.Lys2453Asn
XM_011524855.1:c.7359A>T	XP_011523157.1:p.Lys2453Asn
XM_011524856.1:c.7359A>T	XP_011523158.1:p.Lys2453Asn
XM_011524857.1:c.7398A>T	XP_011523159.1:p.Lys2466Asn