Canonical Allele Identifier: CA399014426

Gene: NF1

Linked Data

• dbSNP Id: rs2151559376
• gnomAD v4: 17-31338791-C-A
• MyVariant Identifiers: chr17:g.29665809C>A (hg19) ; chr17:g.31338791C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338791C>A , CM000679.2:g.31338791C>A	GRCh38
NC_000017.10:g.29665809C>A , CM000679.1:g.29665809C>A	GRCh37
NC_000017.9:g.26689935C>A	NCBI36
NG_009018.1:g.248815C>A , LRG_214:g.248815C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6889C>A	ENSP00000512431.1:p.Pro2297Thr
ENST00000684826.1:c.1471C>A	ENSP00000509994.1:p.Pro491Thr
ENST00000684998.1:n.2729C>A
ENST00000687027.1:c.1063C>A	ENSP00000508715.1:p.Pro355Thr
ENST00000687863.1:n.3552C>A
ENST00000691014.1:c.6937C>A	ENSP00000510595.1:p.Pro2313Thr
ENST00000693617.1:c.1471C>A	ENSP00000510031.1:p.Pro491Thr
ENST00000358273.9:c.6907C>A MANE Select	ENSP00000351015.4:p.Pro2303Thr
ENST00000356175.7:c.6844C>A	ENSP00000348498.3:p.Pro2282Thr
ENST00000358273.8:c.6907C>A	ENSP00000351015.4:p.Pro2303Thr
ENST00000456735.6:c.5842C>A	ENSP00000389907.2:p.Pro1948Thr
ENST00000471572.6:c.290C>A
ENST00000579081.5:c.7043C>A	ENSP00000462408.1:n.7043C>A
ENST00000581790.5:c.64+911C>A
ENST00000584328.1:n.321C>A
NM_000267.3:c.6844C>A , LRG_214t1:c.6844C>A	NP_000258.1:p.Pro2282Thr
NM_001042492.2:c.6907C>A , LRG_214t2:c.6907C>A	NP_001035957.1:p.Pro2303Thr
XM_005257983.1:c.6907C>A	XP_005258040.1:p.Pro2303Thr
XM_005257984.1:c.6844C>A	XP_005258041.1:p.Pro2282Thr
XM_006721922.1:c.6937C>A	XP_006721985.1:p.Pro2313Thr
XM_006721923.2:c.6898C>A	XP_006721986.1:p.Pro2300Thr
XM_006721924.1:c.6937C>A	XP_006721987.1:p.Pro2313Thr
XM_006721925.1:c.6874C>A	XP_006721988.1:p.Pro2292Thr
XM_006721926.2:c.6937C>A	XP_006721989.1:p.Pro2313Thr
XM_006721927.1:c.6937C>A	XP_006721990.1:p.Pro2313Thr
XM_011524852.1:c.6934C>A	XP_011523154.1:p.Pro2312Thr
XM_011524853.1:c.6898C>A	XP_011523155.1:p.Pro2300Thr
XM_011524854.1:c.6898C>A	XP_011523156.1:p.Pro2300Thr
XM_011524855.1:c.6898C>A	XP_011523157.1:p.Pro2300Thr
XM_011524856.1:c.6898C>A	XP_011523158.1:p.Pro2300Thr
XM_011524857.1:c.6937C>A	XP_011523159.1:p.Pro2313Thr
NM_001042492.3:c.6907C>A MANE Select	NP_001035957.1:p.Pro2303Thr