Canonical Allele Identifier: CA2637072007

Gene: NF1

Linked Data

• gnomAD v4: 17-31094975-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31094975C>A , CM000679.2:g.31094975C>A	GRCh38
NC_000017.10:g.29421993C>A , CM000679.1:g.29421993C>A	GRCh37
NC_000017.9:g.26446119C>A	NCBI36
NG_009018.1:g.4999C>A , LRG_214:g.4999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.-335C>A	ENSP00000512431.1:n.-335C>A
ENST00000356175.7:c.-335C>A	ENSP00000348498.3:n.-335C>A
ENST00000358273.8:c.-335C>A	ENSP00000351015.4:n.-335C>A
ENST00000487476.5:n.49C>A
NM_000267.3:c.-335C>A , LRG_214t1:c.-335C>A	NP_000258.1:n.-335C>A
NM_001042492.2:c.-335C>A , LRG_214t2:c.-335C>A	NP_001035957.1:n.-335C>A
NM_001128147.2:c.-335C>A	NP_001121619.1:n.-335C>A
XM_006721923.2:c.21+22926C>A	XP_006721986.1:n.21+22926C>A
XM_011524853.1:c.21+22926C>A	XP_011523155.1:n.21+22926C>A
XM_011524854.1:c.21+22926C>A	XP_011523156.1:n.21+22926C>A
XM_011524855.1:c.21+22926C>A	XP_011523157.1:n.21+22926C>A
XM_011524856.1:c.21+22926C>A	XP_011523158.1:n.21+22926C>A