Canonical Allele Identifier: CA289407372

Gene: NF1

Linked Data

• dbSNP Id: rs760622243
• gnomAD v4: 17-31356924-G-C
• MyVariant Identifiers: chr17:g.31356924G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31356924G>C , CM000679.2:g.31356924G>C	GRCh38
NC_000017.10:g.29683942G>C , CM000679.1:g.29683942G>C	GRCh37
NC_000017.9:g.26708068G>C	NCBI36
NG_009018.1:g.266948G>C , LRG_214:g.266948G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7721-36G>C	ENSP00000512431.1:n.7721-36G>C
ENST00000684826.1:c.2303-36G>C	ENSP00000509994.1:n.2303-36G>C
ENST00000687027.1:c.1895-36G>C	ENSP00000508715.1:n.1895-36G>C
ENST00000687863.1:n.4384-36G>C
ENST00000689464.1:c.789-36G>C
ENST00000691014.1:c.7769-36G>C	ENSP00000510595.1:n.7769-36G>C
ENST00000693617.1:c.2303-36G>C	ENSP00000510031.1:n.2303-36G>C
ENST00000358273.9:c.7739-36G>C MANE Select	ENSP00000351015.4:n.7739-36G>C
ENST00000356175.7:c.7676-36G>C	ENSP00000348498.3:n.7676-36G>C
ENST00000358273.8:c.7739-36G>C	ENSP00000351015.4:n.7739-36G>C
ENST00000456735.6:c.6674-36G>C	ENSP00000389907.2:n.6674-36G>C
ENST00000471572.6:c.1122-36G>C
ENST00000577967.1:n.1121G>C
ENST00000579081.5:c.7875-36G>C	ENSP00000462408.1:n.7875-36G>C
ENST00000581790.5:c.724-36G>C
NM_000267.3:c.7676-36G>C , LRG_214t1:c.7676-36G>C	NP_000258.1:n.7676-36G>C
NM_001042492.2:c.7739-36G>C , LRG_214t2:c.7739-36G>C	NP_001035957.1:n.7739-36G>C
XM_005257983.1:c.7739-36G>C	XP_005258040.1:n.7739-36G>C
XM_005257984.1:c.7676-36G>C	XP_005258041.1:n.7676-36G>C
XM_006721922.1:c.7769-36G>C	XP_006721985.1:n.7769-36G>C
XM_006721923.2:c.7730-36G>C	XP_006721986.1:n.7730-36G>C
XM_006721924.1:c.7769-36G>C	XP_006721987.1:n.7769-36G>C
XM_006721925.1:c.7706-36G>C	XP_006721988.1:n.7706-36G>C
XM_006721926.2:c.7769-36G>C	XP_006721989.1:n.7769-36G>C
XM_006721927.1:c.7769-36G>C	XP_006721990.1:n.7769-36G>C
XM_011524852.1:c.7766-36G>C	XP_011523154.1:n.7766-36G>C
XM_011524853.1:c.7730-36G>C	XP_011523155.1:n.7730-36G>C
XM_011524854.1:c.7730-36G>C	XP_011523156.1:n.7730-36G>C
XM_011524855.1:c.7730-36G>C	XP_011523157.1:n.7730-36G>C
XM_011524856.1:c.7730-36G>C	XP_011523158.1:n.7730-36G>C
XM_011524857.1:c.7646-36G>C	XP_011523159.1:n.7646-36G>C
NM_001042492.3:c.7739-36G>C MANE Select	NP_001035957.1:n.7739-36G>C