Canonical Allele Identifier: CA399006919

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29652854A>C (hg19) ; chr17:g.31325836A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325836A>C , CM000679.2:g.31325836A>C	GRCh38
NC_000017.10:g.29652854A>C , CM000679.1:g.29652854A>C	GRCh37
NC_000017.9:g.26676980A>C	NCBI36
NG_009018.1:g.235860A>C , LRG_214:g.235860A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1040A>C	ENSP00000492721.2:n.1040A>C
ENST00000696138.1:c.4834A>C	ENSP00000512431.1:p.Ile1612Leu
ENST00000684826.1:c.-585A>C	ENSP00000509994.1:n.-585A>C
ENST00000687027.1:c.-652A>C	ENSP00000508715.1:n.-652A>C
ENST00000687863.1:n.1497A>C
ENST00000691014.1:c.4882A>C	ENSP00000510595.1:p.Ile1628Leu
ENST00000693617.1:c.-585A>C	ENSP00000510031.1:n.-585A>C
ENST00000358273.9:c.4852A>C MANE Select	ENSP00000351015.4:p.Ile1618Leu
ENST00000356175.7:c.4789A>C	ENSP00000348498.3:p.Ile1597Leu
ENST00000358273.8:c.4852A>C	ENSP00000351015.4:p.Ile1618Leu
ENST00000456735.6:c.3787A>C	ENSP00000389907.2:p.Ile1263Leu
ENST00000493220.5:n.3325A>C
ENST00000579081.5:c.4988A>C	ENSP00000462408.1:n.4988A>C
ENST00000581113.6:n.169A>C
NM_000267.3:c.4789A>C , LRG_214t1:c.4789A>C	NP_000258.1:p.Ile1597Leu
NM_001042492.2:c.4852A>C , LRG_214t2:c.4852A>C	NP_001035957.1:p.Ile1618Leu
XM_005257983.1:c.4852A>C	XP_005258040.1:p.Ile1618Leu
XM_005257984.1:c.4789A>C	XP_005258041.1:p.Ile1597Leu
XM_006721922.1:c.4882A>C	XP_006721985.1:p.Ile1628Leu
XM_006721923.2:c.4843A>C	XP_006721986.1:p.Ile1615Leu
XM_006721924.1:c.4882A>C	XP_006721987.1:p.Ile1628Leu
XM_006721925.1:c.4819A>C	XP_006721988.1:p.Ile1607Leu
XM_006721926.2:c.4882A>C	XP_006721989.1:p.Ile1628Leu
XM_006721927.1:c.4882A>C	XP_006721990.1:p.Ile1628Leu
XM_011524852.1:c.4879A>C	XP_011523154.1:p.Ile1627Leu
XM_011524853.1:c.4843A>C	XP_011523155.1:p.Ile1615Leu
XM_011524854.1:c.4843A>C	XP_011523156.1:p.Ile1615Leu
XM_011524855.1:c.4843A>C	XP_011523157.1:p.Ile1615Leu
XM_011524856.1:c.4843A>C	XP_011523158.1:p.Ile1615Leu
XM_011524857.1:c.4882A>C	XP_011523159.1:p.Ile1628Leu
NM_001042492.3:c.4852A>C MANE Select	NP_001035957.1:p.Ile1618Leu