Canonical Allele Identifier: CA16615312
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404571
ClinVar RCV Id: RCV000476980

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338806G>A , CM000679.2:g.31338806G>A GRCh38
NC_000017.10:g.29665824G>A , CM000679.1:g.29665824G>A GRCh37
NC_000017.9:g.26689950G>A NCBI36
NG_009018.1:g.248830G>A , LRG_214:g.248830G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000358273.9:c.6921+1G>A MANE Select ENSP00000351015.4:p.=
ENST00000356175.7:c.6858+1G>A ENSP00000348498.3:p.=
ENST00000358273.8:c.6921+1G>A ENSP00000351015.4:p.=
ENST00000456735.6:n.5856+1G>A ENSP00000389907.2:p.=
ENST00000471572.6:n.304+1G>A
ENST00000579081.5:n.7057+1G>A ENSP00000462408.1:p.=
ENST00000581790.5:n.64+926G>A
ENST00000584328.1:n.335+1G>A
NM_000267.3:c.6858+1G>A , LRG_214t1:c.6858+1G>A NP_000258.1:p.=
NM_001042492.2:c.6921+1G>A , LRG_214t2:c.6921+1G>A NP_001035957.1:p.=
XM_005257983.1:c.6921+1G>A XP_005258040.1:p.=
XM_005257984.1:c.6858+1G>A XP_005258041.1:p.=
XM_006721922.1:c.6951+1G>A XP_006721985.1:p.=
XM_006721923.2:c.6912+1G>A XP_006721986.1:p.=
XM_006721924.1:c.6951+1G>A XP_006721987.1:p.=
XM_006721925.1:c.6888+1G>A XP_006721988.1:p.=
XM_006721926.2:c.6951+1G>A XP_006721989.1:p.=
XM_006721927.1:c.6951+1G>A XP_006721990.1:p.=
XM_011524852.1:c.6948+1G>A XP_011523154.1:p.=
XM_011524853.1:c.6912+1G>A XP_011523155.1:p.=
XM_011524854.1:c.6912+1G>A XP_011523156.1:p.=
XM_011524855.1:c.6912+1G>A XP_011523157.1:p.=
XM_011524856.1:c.6912+1G>A XP_011523158.1:p.=
XM_011524857.1:c.6951+1G>A XP_011523159.1:p.=
NM_001042492.3:c.6921+1G>A MANE Select NP_001035957.1:p.=