Canonical Allele Identifier: CA8487789

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31360650A>C , CM000679.2:g.31360650A>C	GRCh38
NC_000017.10:g.29687668A>C , CM000679.1:g.29687668A>C	GRCh37
NC_000017.9:g.26711794A>C	NCBI36
NG_009018.1:g.270674A>C , LRG_214:g.270674A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.8324A>C MANE Select	NP_001035957.1:p.Asn2775Thr
ENST00000358273.9:c.8324A>C MANE Select	ENSP00000351015.4:p.Asn2775Thr
NM_000267.3:c.8261A>C , LRG_214t1:c.8261A>C	NP_000258.1:p.Asn2754Thr
NM_001042492.2:c.8324A>C , LRG_214t2:c.8324A>C	NP_001035957.1:p.Asn2775Thr
ENST00000356175.7:c.8261A>C	ENSP00000348498.3:p.Asn2754Thr
ENST00000358273.8:c.8324A>C	ENSP00000351015.4:p.Asn2775Thr
ENST00000456735.6:c.7259A>C	ENSP00000389907.2:p.Asn2420Thr
ENST00000468273.1:c.286A>C
ENST00000471572.6:c.1707A>C
ENST00000577967.1:n.4847A>C
ENST00000579081.5:c.8460A>C	ENSP00000462408.1:n.8460A>C
ENST00000684826.1:c.2888A>C	ENSP00000509994.1:p.Asn963Thr
ENST00000687027.1:c.2480A>C	ENSP00000508715.1:p.Asn827Thr
ENST00000689464.1:c.1374A>C
ENST00000691014.1:c.8354A>C	ENSP00000510595.1:p.Asn2785Thr
ENST00000693617.1:c.2888A>C	ENSP00000510031.1:p.Asn963Thr
ENST00000696138.1:c.8306A>C	ENSP00000512431.1:p.Asn2769Thr
XM_005257983.1:c.8324A>C	XP_005258040.1:p.Asn2775Thr
XM_005257984.1:c.8261A>C	XP_005258041.1:p.Asn2754Thr
XM_006721922.1:c.8354A>C	XP_006721985.1:p.Asn2785Thr
XM_006721923.2:c.8315A>C	XP_006721986.1:p.Asn2772Thr
XM_006721924.1:c.8354A>C	XP_006721987.1:p.Asn2785Thr
XM_006721925.1:c.8291A>C	XP_006721988.1:p.Asn2764Thr
XM_006721926.2:c.8354A>C	XP_006721989.1:p.Asn2785Thr
XM_006721927.1:c.8354A>C	XP_006721990.1:p.Asn2785Thr
XM_011524852.1:c.8351A>C	XP_011523154.1:p.Asn2784Thr
XM_011524853.1:c.8315A>C	XP_011523155.1:p.Asn2772Thr
XM_011524854.1:c.8315A>C	XP_011523156.1:p.Asn2772Thr
XM_011524855.1:c.8315A>C	XP_011523157.1:p.Asn2772Thr
XM_011524856.1:c.8315A>C	XP_011523158.1:p.Asn2772Thr
XM_011524857.1:c.8231A>C	XP_011523159.1:p.Asn2744Thr