Canonical Allele Identifier: CA399203394

Gene: NF1

Linked Data

• ClinVar Variation Id: 527488
• ClinVar RCV Id: RCV000632368 ; RCV002438658 ; RCV003313115 ; RCV002499044
• dbSNP Id: rs1283946778
• gnomAD v2: 17-29684306-C-G
• gnomAD v3: 17-31357288-C-G
• gnomAD v4: 17-31357288-C-G
• MyVariant Identifiers: chr17:g.29684306C>G (hg19) ; chr17:g.31357288C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357288C>G , CM000679.2:g.31357288C>G	GRCh38
NC_000017.10:g.29684306C>G , CM000679.1:g.29684306C>G	GRCh37
NC_000017.9:g.26708432C>G	NCBI36
NG_009018.1:g.267312C>G , LRG_214:g.267312C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7871C>G	ENSP00000512431.1:p.Thr2624Ser
ENST00000684826.1:c.2453C>G	ENSP00000509994.1:p.Thr818Ser
ENST00000687027.1:c.2045C>G	ENSP00000508715.1:p.Thr682Ser
ENST00000687863.1:n.4534C>G
ENST00000689464.1:c.939C>G
ENST00000691014.1:c.7919C>G	ENSP00000510595.1:p.Thr2640Ser
ENST00000693617.1:c.2453C>G	ENSP00000510031.1:p.Thr818Ser
ENST00000358273.9:c.7889C>G MANE Select	ENSP00000351015.4:p.Thr2630Ser
ENST00000356175.7:c.7826C>G	ENSP00000348498.3:p.Thr2609Ser
ENST00000358273.8:c.7889C>G	ENSP00000351015.4:p.Thr2630Ser
ENST00000456735.6:c.6824C>G	ENSP00000389907.2:p.Thr2275Ser
ENST00000471572.6:c.1272C>G
ENST00000577967.1:n.1485C>G
ENST00000579081.5:c.8025C>G	ENSP00000462408.1:n.8025C>G
ENST00000581790.5:c.874C>G
NM_000267.3:c.7826C>G , LRG_214t1:c.7826C>G	NP_000258.1:p.Thr2609Ser
NM_001042492.2:c.7889C>G , LRG_214t2:c.7889C>G	NP_001035957.1:p.Thr2630Ser
XM_005257983.1:c.7889C>G	XP_005258040.1:p.Thr2630Ser
XM_005257984.1:c.7826C>G	XP_005258041.1:p.Thr2609Ser
XM_006721922.1:c.7919C>G	XP_006721985.1:p.Thr2640Ser
XM_006721923.2:c.7880C>G	XP_006721986.1:p.Thr2627Ser
XM_006721924.1:c.7919C>G	XP_006721987.1:p.Thr2640Ser
XM_006721925.1:c.7856C>G	XP_006721988.1:p.Thr2619Ser
XM_006721926.2:c.7919C>G	XP_006721989.1:p.Thr2640Ser
XM_006721927.1:c.7919C>G	XP_006721990.1:p.Thr2640Ser
XM_011524852.1:c.7916C>G	XP_011523154.1:p.Thr2639Ser
XM_011524853.1:c.7880C>G	XP_011523155.1:p.Thr2627Ser
XM_011524854.1:c.7880C>G	XP_011523156.1:p.Thr2627Ser
XM_011524855.1:c.7880C>G	XP_011523157.1:p.Thr2627Ser
XM_011524856.1:c.7880C>G	XP_011523158.1:p.Thr2627Ser
XM_011524857.1:c.7796C>G	XP_011523159.1:p.Thr2599Ser
NM_001042492.3:c.7889C>G MANE Select	NP_001035957.1:p.Thr2630Ser