Canonical Allele Identifier: CA10583508

Gene: NF1

Linked Data

• ClinVar Variation Id: 237571
• ClinVar RCV Id: RCV000230945 ; RCV000564137
• dbSNP Id: rs755137259
• gnomAD v4: 17-31265338-A-C
• MyVariant Identifiers: chr17:g.29592356A>C (hg19) ; chr17:g.31265338A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265338A>C , CM000679.2:g.31265338A>C	GRCh38
NC_000017.10:g.29592356A>C , CM000679.1:g.29592356A>C	GRCh37
NC_000017.9:g.26616482A>C	NCBI36
NG_009018.1:g.175362A>C , LRG_214:g.175362A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.636A>C	ENSP00000492721.2:n.636A>C
ENST00000696138.1:c.4816A>C	ENSP00000512431.1:p.Arg1606=
ENST00000696140.1:n.940A>C
ENST00000696141.1:c.825A>C
ENST00000687863.1:n.1479A>C
ENST00000691014.1:c.4864A>C	ENSP00000510595.1:p.Arg1622=
ENST00000358273.9:c.4834A>C MANE Select	ENSP00000351015.4:p.Arg1612=
ENST00000356175.7:c.4771A>C	ENSP00000348498.3:p.Arg1591=
ENST00000358273.8:c.4834A>C	ENSP00000351015.4:p.Arg1612=
ENST00000456735.6:c.3769A>C	ENSP00000389907.2:p.Arg1257=
ENST00000493220.5:n.3307A>C
ENST00000579081.5:c.4873A>C	ENSP00000462408.1:p.Arg1625=
NM_000267.3:c.4771A>C , LRG_214t1:c.4771A>C	NP_000258.1:p.Arg1591=
NM_001042492.2:c.4834A>C , LRG_214t2:c.4834A>C	NP_001035957.1:p.Arg1612=
XM_005257983.1:c.4834A>C	XP_005258040.1:p.Arg1612=
XM_005257984.1:c.4771A>C	XP_005258041.1:p.Arg1591=
XM_006721922.1:c.4864A>C	XP_006721985.1:p.Arg1622=
XM_006721923.2:c.4825A>C	XP_006721986.1:p.Arg1609=
XM_006721924.1:c.4864A>C	XP_006721987.1:p.Arg1622=
XM_006721925.1:c.4801A>C	XP_006721988.1:p.Arg1601=
XM_006721926.2:c.4864A>C	XP_006721989.1:p.Arg1622=
XM_006721927.1:c.4864A>C	XP_006721990.1:p.Arg1622=
XM_006721928.2:c.4864A>C	XP_006721991.1:p.Arg1622=
XM_011524852.1:c.4861A>C	XP_011523154.1:p.Arg1621=
XM_011524853.1:c.4825A>C	XP_011523155.1:p.Arg1609=
XM_011524854.1:c.4825A>C	XP_011523156.1:p.Arg1609=
XM_011524855.1:c.4825A>C	XP_011523157.1:p.Arg1609=
XM_011524856.1:c.4825A>C	XP_011523158.1:p.Arg1609=
XM_011524857.1:c.4864A>C	XP_011523159.1:p.Arg1622=
NM_001042492.3:c.4834A>C MANE Select	NP_001035957.1:p.Arg1612=