Canonical Allele Identifier: CA10648991

Gene: NF1

Linked Data

• ClinVar Variation Id: 322563
• ClinVar RCV Id: RCV000284478 ; RCV000319511 ; RCV000341266 ; RCV000376586
• dbSNP Id: rs886052793
• MyVariant Identifiers: chr17:g.29422213T>C (hg19) ; chr17:g.31095195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31095195T>C , CM000679.2:g.31095195T>C	GRCh38
NC_000017.10:g.29422213T>C , CM000679.1:g.29422213T>C	GRCh37
NC_000017.9:g.26446339T>C	NCBI36
NG_009018.1:g.5219T>C , LRG_214:g.5219T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.-115T>C	ENSP00000512431.1:n.-115T>C
ENST00000691014.1:c.-115T>C	ENSP00000510595.1:n.-115T>C
ENST00000358273.9:c.-115T>C MANE Select	ENSP00000351015.4:n.-115T>C
ENST00000356175.7:c.-115T>C	ENSP00000348498.3:n.-115T>C
ENST00000358273.8:c.-115T>C	ENSP00000351015.4:n.-115T>C
ENST00000431387.8:c.-115T>C	ENSP00000412921.4:n.-115T>C
ENST00000487476.5:n.269T>C
NM_000267.3:c.-115T>C , LRG_214t1:c.-115T>C	NP_000258.1:n.-115T>C
NM_001042492.2:c.-115T>C , LRG_214t2:c.-115T>C	NP_001035957.1:n.-115T>C
NM_001128147.2:c.-115T>C	NP_001121619.1:n.-115T>C
XM_005257983.1:c.-115T>C	XP_005258040.1:n.-115T>C
XM_005257984.1:c.-115T>C	XP_005258041.1:n.-115T>C
XM_006721922.1:c.-115T>C	XP_006721985.1:n.-115T>C
XM_006721923.2:c.21+23146T>C	XP_006721986.1:n.21+23146T>C
XM_006721924.1:c.-115T>C	XP_006721987.1:n.-115T>C
XM_006721925.1:c.-115T>C	XP_006721988.1:n.-115T>C
XM_006721926.2:c.-115T>C	XP_006721989.1:n.-115T>C
XM_006721927.1:c.-115T>C	XP_006721990.1:n.-115T>C
XM_006721928.2:c.-115T>C	XP_006721991.1:n.-115T>C
XM_011524852.1:c.-115T>C	XP_011523154.1:n.-115T>C
XM_011524853.1:c.21+23146T>C	XP_011523155.1:n.21+23146T>C
XM_011524854.1:c.21+23146T>C	XP_011523156.1:n.21+23146T>C
XM_011524855.1:c.21+23146T>C	XP_011523157.1:n.21+23146T>C
XM_011524856.1:c.21+23146T>C	XP_011523158.1:n.21+23146T>C
XM_011524857.1:c.-115T>C	XP_011523159.1:n.-115T>C
NM_001042492.3:c.-115T>C MANE Select	NP_001035957.1:n.-115T>C
NM_001128147.3:c.-115T>C	NP_001121619.1:n.-115T>C