Canonical Allele Identifier: CA289387506

Gene: NF1

Linked Data

• dbSNP Id: rs764805350
• gnomAD v2: 17-29664960-C-T
• gnomAD v3: 17-31337942-C-T
• gnomAD v4: 17-31337942-C-T
• MyVariant Identifiers: chr17:g.29664960C>T (hg19) ; chr17:g.31337942C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31337942C>T , CM000679.2:g.31337942C>T	GRCh38
NC_000017.10:g.29664960C>T , CM000679.1:g.29664960C>T	GRCh37
NC_000017.9:g.26689086C>T	NCBI36
NG_009018.1:g.247966C>T , LRG_214:g.247966C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6686+62C>T	ENSP00000512431.1:n.6686+62C>T
ENST00000684826.1:c.1268+62C>T	ENSP00000509994.1:n.1268+62C>T
ENST00000684998.1:n.1880C>T
ENST00000687027.1:c.860+62C>T	ENSP00000508715.1:n.860+62C>T
ENST00000687863.1:n.3349+62C>T
ENST00000691014.1:c.6734+62C>T	ENSP00000510595.1:n.6734+62C>T
ENST00000693617.1:c.1268+62C>T	ENSP00000510031.1:n.1268+62C>T
ENST00000358273.9:c.6704+62C>T MANE Select	ENSP00000351015.4:n.6704+62C>T
ENST00000356175.7:c.6641+62C>T	ENSP00000348498.3:n.6641+62C>T
ENST00000358273.8:c.6704+62C>T	ENSP00000351015.4:n.6704+62C>T
ENST00000456735.6:c.5639+62C>T	ENSP00000389907.2:n.5639+62C>T
ENST00000471572.6:c.65-60C>T
ENST00000579081.5:c.6840+62C>T	ENSP00000462408.1:n.6840+62C>T
ENST00000581790.5:c.64+62C>T
ENST00000584328.1:n.118+62C>T
NM_000267.3:c.6641+62C>T , LRG_214t1:c.6641+62C>T	NP_000258.1:n.6641+62C>T
NM_001042492.2:c.6704+62C>T , LRG_214t2:c.6704+62C>T	NP_001035957.1:n.6704+62C>T
XM_005257983.1:c.6704+62C>T	XP_005258040.1:n.6704+62C>T
XM_005257984.1:c.6641+62C>T	XP_005258041.1:n.6641+62C>T
XM_006721922.1:c.6734+62C>T	XP_006721985.1:n.6734+62C>T
XM_006721923.2:c.6695+62C>T	XP_006721986.1:n.6695+62C>T
XM_006721924.1:c.6734+62C>T	XP_006721987.1:n.6734+62C>T
XM_006721925.1:c.6671+62C>T	XP_006721988.1:n.6671+62C>T
XM_006721926.2:c.6734+62C>T	XP_006721989.1:n.6734+62C>T
XM_006721927.1:c.6734+62C>T	XP_006721990.1:n.6734+62C>T
XM_011524852.1:c.6731+62C>T	XP_011523154.1:n.6731+62C>T
XM_011524853.1:c.6695+62C>T	XP_011523155.1:n.6695+62C>T
XM_011524854.1:c.6695+62C>T	XP_011523156.1:n.6695+62C>T
XM_011524855.1:c.6695+62C>T	XP_011523157.1:n.6695+62C>T
XM_011524856.1:c.6695+62C>T	XP_011523158.1:n.6695+62C>T
XM_011524857.1:c.6734+62C>T	XP_011523159.1:n.6734+62C>T
NM_001042492.3:c.6704+62C>T MANE Select	NP_001035957.1:n.6704+62C>T