Canonical Allele Identifier: CA2573153848
Community Standard Title: NM_001042492.3(NF1):c.6643-12C>T
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31337807C>T , CM000679.2:g.31337807C>T GRCh38
NC_000017.10:g.29664825C>T , CM000679.1:g.29664825C>T GRCh37
NC_000017.9:g.26688951C>T NCBI36
NG_009018.1:g.247831C>T , LRG_214:g.247831C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.6643-12C>T MANE Select NP_001035957.1:n.6643-12C>T
ENST00000358273.9:c.6643-12C>T MANE Select ENSP00000351015.4:n.6643-12C>T
NM_000267.3:c.6580-12C>T , LRG_214t1:c.6580-12C>T NP_000258.1:n.6580-12C>T
NM_001042492.2:c.6643-12C>T , LRG_214t2:c.6643-12C>T NP_001035957.1:n.6643-12C>T
ENST00000356175.7:c.6580-12C>T ENSP00000348498.3:n.6580-12C>T
ENST00000358273.8:c.6643-12C>T ENSP00000351015.4:n.6643-12C>T
ENST00000456735.6:c.5578-12C>T ENSP00000389907.2:n.5578-12C>T
ENST00000579081.5:c.6779-12C>T ENSP00000462408.1:n.6779-12C>T
ENST00000584328.1:n.45C>T
ENST00000684826.1:c.1207-12C>T ENSP00000509994.1:n.1207-12C>T
ENST00000684998.1:n.1745C>T
ENST00000687027.1:c.799-12C>T ENSP00000508715.1:n.799-12C>T
ENST00000687863.1:n.3288-12C>T
ENST00000691014.1:c.6673-12C>T ENSP00000510595.1:n.6673-12C>T
ENST00000693617.1:c.1207-12C>T ENSP00000510031.1:n.1207-12C>T
ENST00000696138.1:c.6625-12C>T ENSP00000512431.1:n.6625-12C>T
XM_005257983.1:c.6643-12C>T XP_005258040.1:n.6643-12C>T
XM_005257984.1:c.6580-12C>T XP_005258041.1:n.6580-12C>T
XM_006721922.1:c.6673-12C>T XP_006721985.1:n.6673-12C>T
XM_006721923.2:c.6634-12C>T XP_006721986.1:n.6634-12C>T
XM_006721924.1:c.6673-12C>T XP_006721987.1:n.6673-12C>T
XM_006721925.1:c.6610-12C>T XP_006721988.1:n.6610-12C>T
XM_006721926.2:c.6673-12C>T XP_006721989.1:n.6673-12C>T
XM_006721927.1:c.6673-12C>T XP_006721990.1:n.6673-12C>T
XM_011524852.1:c.6670-12C>T XP_011523154.1:n.6670-12C>T
XM_011524853.1:c.6634-12C>T XP_011523155.1:n.6634-12C>T
XM_011524854.1:c.6634-12C>T XP_011523156.1:n.6634-12C>T
XM_011524855.1:c.6634-12C>T XP_011523157.1:n.6634-12C>T
XM_011524856.1:c.6634-12C>T XP_011523158.1:n.6634-12C>T
XM_011524857.1:c.6673-12C>T XP_011523159.1:n.6673-12C>T