Canonical Allele Identifier: CA10639319

Gene: NF1

Linked Data

• ClinVar Variation Id: 322562
• ClinVar RCV Id: RCV000277292 ; RCV000280867 ; RCV000315896 ; RCV000372887 ; RCV002502249
• dbSNP Id: rs886052792
• gnomAD v2: 17-29422180-C-A
• gnomAD v4: 17-31095162-C-A
• MyVariant Identifiers: chr17:g.29422180C>A (hg19) ; chr17:g.31095162C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31095162C>A , CM000679.2:g.31095162C>A	GRCh38
NC_000017.10:g.29422180C>A , CM000679.1:g.29422180C>A	GRCh37
NC_000017.9:g.26446306C>A	NCBI36
NG_009018.1:g.5186C>A , LRG_214:g.5186C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.-148C>A	ENSP00000512431.1:n.-148C>A
ENST00000691014.1:c.-148C>A	ENSP00000510595.1:n.-148C>A
ENST00000358273.9:c.-148C>A MANE Select	ENSP00000351015.4:n.-148C>A
ENST00000356175.7:c.-148C>A	ENSP00000348498.3:n.-148C>A
ENST00000358273.8:c.-148C>A	ENSP00000351015.4:n.-148C>A
ENST00000431387.8:c.-148C>A	ENSP00000412921.4:n.-148C>A
ENST00000487476.5:n.236C>A
NM_000267.3:c.-148C>A , LRG_214t1:c.-148C>A	NP_000258.1:n.-148C>A
NM_001042492.2:c.-148C>A , LRG_214t2:c.-148C>A	NP_001035957.1:n.-148C>A
NM_001128147.2:c.-148C>A	NP_001121619.1:n.-148C>A
XM_005257983.1:c.-148C>A	XP_005258040.1:n.-148C>A
XM_005257984.1:c.-148C>A	XP_005258041.1:n.-148C>A
XM_006721922.1:c.-148C>A	XP_006721985.1:n.-148C>A
XM_006721923.2:c.21+23113C>A	XP_006721986.1:n.21+23113C>A
XM_006721924.1:c.-148C>A	XP_006721987.1:n.-148C>A
XM_006721925.1:c.-148C>A	XP_006721988.1:n.-148C>A
XM_006721926.2:c.-148C>A	XP_006721989.1:n.-148C>A
XM_006721927.1:c.-148C>A	XP_006721990.1:n.-148C>A
XM_006721928.2:c.-148C>A	XP_006721991.1:n.-148C>A
XM_011524852.1:c.-148C>A	XP_011523154.1:n.-148C>A
XM_011524853.1:c.21+23113C>A	XP_011523155.1:n.21+23113C>A
XM_011524854.1:c.21+23113C>A	XP_011523156.1:n.21+23113C>A
XM_011524855.1:c.21+23113C>A	XP_011523157.1:n.21+23113C>A
XM_011524856.1:c.21+23113C>A	XP_011523158.1:n.21+23113C>A
XM_011524857.1:c.-148C>A	XP_011523159.1:n.-148C>A
NM_001042492.3:c.-148C>A MANE Select	NP_001035957.1:n.-148C>A
NM_001128147.3:c.-148C>A	NP_001121619.1:n.-148C>A