Canonical Allele Identifier: CA350845

Gene: NF1

Linked Data

• ClinVar Variation Id: 220337
• ClinVar RCV Id: RCV000206850 ; RCV000368645 ; RCV000397735 ; RCV001558774 ; RCV004547485 ; RCV000335775
• dbSNP Id: rs372441422
• ExAC: 17:29684279 C / A
• gnomAD v2: 17-29684279-C-A
• gnomAD v3: 17-31357261-C-A
• gnomAD v4: 17-31357261-C-A
• MyVariant Identifiers: chr17:g.29684279C>A (hg19) ; chr17:g.31357261C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357261C>A , CM000679.2:g.31357261C>A	GRCh38
NC_000017.10:g.29684279C>A , CM000679.1:g.29684279C>A	GRCh37
NC_000017.9:g.26708405C>A	NCBI36
NG_009018.1:g.267285C>A , LRG_214:g.267285C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7852-8C>A	ENSP00000512431.1:n.7852-8C>A
ENST00000684826.1:c.2434-8C>A	ENSP00000509994.1:n.2434-8C>A
ENST00000687027.1:c.2026-8C>A	ENSP00000508715.1:n.2026-8C>A
ENST00000687863.1:n.4515-8C>A
ENST00000689464.1:c.920-8C>A
ENST00000691014.1:c.7900-8C>A	ENSP00000510595.1:n.7900-8C>A
ENST00000693617.1:c.2434-8C>A	ENSP00000510031.1:n.2434-8C>A
ENST00000358273.9:c.7870-8C>A MANE Select	ENSP00000351015.4:n.7870-8C>A
ENST00000356175.7:c.7807-8C>A	ENSP00000348498.3:n.7807-8C>A
ENST00000358273.8:c.7870-8C>A	ENSP00000351015.4:n.7870-8C>A
ENST00000456735.6:c.6805-8C>A	ENSP00000389907.2:n.6805-8C>A
ENST00000471572.6:c.1253-8C>A
ENST00000577967.1:n.1458C>A
ENST00000579081.5:c.8006-8C>A	ENSP00000462408.1:n.8006-8C>A
ENST00000581790.5:c.855-8C>A
NM_000267.3:c.7807-8C>A , LRG_214t1:c.7807-8C>A	NP_000258.1:n.7807-8C>A
NM_001042492.2:c.7870-8C>A , LRG_214t2:c.7870-8C>A	NP_001035957.1:n.7870-8C>A
XM_005257983.1:c.7870-8C>A	XP_005258040.1:n.7870-8C>A
XM_005257984.1:c.7807-8C>A	XP_005258041.1:n.7807-8C>A
XM_006721922.1:c.7900-8C>A	XP_006721985.1:n.7900-8C>A
XM_006721923.2:c.7861-8C>A	XP_006721986.1:n.7861-8C>A
XM_006721924.1:c.7900-8C>A	XP_006721987.1:n.7900-8C>A
XM_006721925.1:c.7837-8C>A	XP_006721988.1:n.7837-8C>A
XM_006721926.2:c.7900-8C>A	XP_006721989.1:n.7900-8C>A
XM_006721927.1:c.7900-8C>A	XP_006721990.1:n.7900-8C>A
XM_011524852.1:c.7897-8C>A	XP_011523154.1:n.7897-8C>A
XM_011524853.1:c.7861-8C>A	XP_011523155.1:n.7861-8C>A
XM_011524854.1:c.7861-8C>A	XP_011523156.1:n.7861-8C>A
XM_011524855.1:c.7861-8C>A	XP_011523157.1:n.7861-8C>A
XM_011524856.1:c.7861-8C>A	XP_011523158.1:n.7861-8C>A
XM_011524857.1:c.7777-8C>A	XP_011523159.1:n.7777-8C>A
NM_001042492.3:c.7870-8C>A MANE Select	NP_001035957.1:n.7870-8C>A