Canonical Allele Identifier: CA399000416

Gene: NF1

Linked Data

• dbSNP Id: rs1597748868
• MyVariant Identifiers: chr17:g.29588814G>T (hg19) ; chr17:g.31261796G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261796G>T , CM000679.2:g.31261796G>T	GRCh38
NC_000017.10:g.29588814G>T , CM000679.1:g.29588814G>T	GRCh37
NC_000017.9:g.26612940G>T	NCBI36
NG_009018.1:g.171820G>T , LRG_214:g.171820G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.465G>T	ENSP00000492721.2:p.Trp155Cys
ENST00000696138.1:c.4645G>T	ENSP00000512431.1:p.Ala1549Ser
ENST00000696140.1:n.769G>T
ENST00000696141.1:c.654G>T
ENST00000687863.1:n.1308G>T
ENST00000691014.1:c.4693G>T	ENSP00000510595.1:p.Ala1565Ser
ENST00000358273.9:c.4663G>T MANE Select	ENSP00000351015.4:p.Ala1555Ser
ENST00000356175.7:c.4600G>T	ENSP00000348498.3:p.Ala1534Ser
ENST00000358273.8:c.4663G>T	ENSP00000351015.4:p.Ala1555Ser
ENST00000456735.6:c.3598G>T	ENSP00000389907.2:p.Ala1200Ser
ENST00000493220.5:n.3136G>T
ENST00000579081.5:c.4702G>T	ENSP00000462408.1:p.Ala1568Ser
NM_000267.3:c.4600G>T , LRG_214t1:c.4600G>T	NP_000258.1:p.Ala1534Ser
NM_001042492.2:c.4663G>T , LRG_214t2:c.4663G>T	NP_001035957.1:p.Ala1555Ser
XM_005257983.1:c.4663G>T	XP_005258040.1:p.Ala1555Ser
XM_005257984.1:c.4600G>T	XP_005258041.1:p.Ala1534Ser
XM_006721922.1:c.4693G>T	XP_006721985.1:p.Ala1565Ser
XM_006721923.2:c.4654G>T	XP_006721986.1:p.Ala1552Ser
XM_006721924.1:c.4693G>T	XP_006721987.1:p.Ala1565Ser
XM_006721925.1:c.4630G>T	XP_006721988.1:p.Ala1544Ser
XM_006721926.2:c.4693G>T	XP_006721989.1:p.Ala1565Ser
XM_006721927.1:c.4693G>T	XP_006721990.1:p.Ala1565Ser
XM_006721928.2:c.4693G>T	XP_006721991.1:p.Ala1565Ser
XM_011524852.1:c.4690G>T	XP_011523154.1:p.Ala1564Ser
XM_011524853.1:c.4654G>T	XP_011523155.1:p.Ala1552Ser
XM_011524854.1:c.4654G>T	XP_011523156.1:p.Ala1552Ser
XM_011524855.1:c.4654G>T	XP_011523157.1:p.Ala1552Ser
XM_011524856.1:c.4654G>T	XP_011523158.1:p.Ala1552Ser
XM_011524857.1:c.4693G>T	XP_011523159.1:p.Ala1565Ser
NM_001042492.3:c.4663G>T MANE Select	NP_001035957.1:p.Ala1555Ser