Canonical Allele Identifier: CA625472906

Gene: NF1

Linked Data

• dbSNP Id: rs1483799434
• gnomAD v2: 17-29669983-T-C
• gnomAD v3: 17-31342965-T-C
• gnomAD v4: 17-31342965-T-C
• MyVariant Identifiers: chr17:g.29669983T>C (hg19) ; chr17:g.31342965T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31342965T>C , CM000679.2:g.31342965T>C	GRCh38
NC_000017.10:g.29669983T>C , CM000679.1:g.29669983T>C	GRCh37
NC_000017.9:g.26694109T>C	NCBI36
NG_009018.1:g.252989T>C , LRG_214:g.252989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7045-44T>C	ENSP00000512431.1:n.7045-44T>C
ENST00000684826.1:c.1627-44T>C	ENSP00000509994.1:n.1627-44T>C
ENST00000687027.1:c.1219-44T>C	ENSP00000508715.1:n.1219-44T>C
ENST00000687863.1:n.3708-44T>C
ENST00000691014.1:c.7093-44T>C	ENSP00000510595.1:n.7093-44T>C
ENST00000693617.1:c.1627-44T>C	ENSP00000510031.1:n.1627-44T>C
ENST00000358273.9:c.7063-44T>C MANE Select	ENSP00000351015.4:n.7063-44T>C
ENST00000356175.7:c.7000-44T>C	ENSP00000348498.3:n.7000-44T>C
ENST00000358273.8:c.7063-44T>C	ENSP00000351015.4:n.7063-44T>C
ENST00000456735.6:c.5998-44T>C	ENSP00000389907.2:n.5998-44T>C
ENST00000471572.6:c.446-44T>C
ENST00000579081.5:c.7199-44T>C	ENSP00000462408.1:n.7199-44T>C
ENST00000581790.5:c.206-44T>C
ENST00000582892.1:n.305-44T>C
ENST00000584328.1:n.477-44T>C
NM_000267.3:c.7000-44T>C , LRG_214t1:c.7000-44T>C	NP_000258.1:n.7000-44T>C
NM_001042492.2:c.7063-44T>C , LRG_214t2:c.7063-44T>C	NP_001035957.1:n.7063-44T>C
XM_005257983.1:c.7063-44T>C	XP_005258040.1:n.7063-44T>C
XM_005257984.1:c.7000-44T>C	XP_005258041.1:n.7000-44T>C
XM_006721922.1:c.7093-44T>C	XP_006721985.1:n.7093-44T>C
XM_006721923.2:c.7054-44T>C	XP_006721986.1:n.7054-44T>C
XM_006721924.1:c.7093-44T>C	XP_006721987.1:n.7093-44T>C
XM_006721925.1:c.7030-44T>C	XP_006721988.1:n.7030-44T>C
XM_006721926.2:c.7093-44T>C	XP_006721989.1:n.7093-44T>C
XM_006721927.1:c.7093-44T>C	XP_006721990.1:n.7093-44T>C
XM_011524852.1:c.7090-44T>C	XP_011523154.1:n.7090-44T>C
XM_011524853.1:c.7054-44T>C	XP_011523155.1:n.7054-44T>C
XM_011524854.1:c.7054-44T>C	XP_011523156.1:n.7054-44T>C
XM_011524855.1:c.7054-44T>C	XP_011523157.1:n.7054-44T>C
XM_011524856.1:c.7054-44T>C	XP_011523158.1:n.7054-44T>C
XM_011524857.1:c.7093-44T>C	XP_011523159.1:n.7093-44T>C
NM_001042492.3:c.7063-44T>C MANE Select	NP_001035957.1:n.7063-44T>C