Canonical Allele Identifier: CA5339870

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 415408
• ClinVar RCV Id: RCV001392576 ; RCV002367596 ; RCV003736783
• dbSNP Id: rs758591166
• ExAC: 9:139391618 C / T
• gnomAD v2: 9-139391618-C-T
• gnomAD v3: 9-136497166-C-T
• gnomAD v4: 9-136497166-C-T
• MyVariant Identifiers: chr9:g.139391618C>T (hg19) ; chr9:g.136497166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497166C>T , CM000671.2:g.136497166C>T	GRCh38
NC_000009.11:g.139391618C>T , CM000671.1:g.139391618C>T	GRCh37
NC_000009.10:g.138511439C>T	NCBI36
NG_007458.1:g.53621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6573G>A MANE Select	ENSP00000498587.1:p.Leu2191=
ENST00000679595.1:c.*1613G>A	ENSP00000506241.1:n.*1613G>A
ENST00000679969.1:n.3169G>A
ENST00000680003.1:n.2905G>A
ENST00000680133.1:c.6459G>A	ENSP00000505319.1:p.Leu2153=
ENST00000680218.1:c.6453G>A	ENSP00000505339.1:p.Leu2151=
ENST00000680668.1:c.6459G>A	ENSP00000506336.1:p.Leu2153=
ENST00000680778.1:c.4170G>A	ENSP00000506033.1:p.Leu1390=
ENST00000680924.1:c.*3973G>A	ENSP00000506031.1:n.*3973G>A
ENST00000681135.1:c.*4182G>A	ENSP00000506636.1:n.*4182G>A
ENST00000681298.1:n.4678G>A
ENST00000681454.1:c.*5809G>A	ENSP00000505763.1:n.*5809G>A
ENST00000277541.6:c.6573G>A	ENSP00000277541.6:p.Leu2191=
NM_017617.3:c.6573G>A	NP_060087.3:p.Leu2191=
XM_011518717.1:c.5874G>A	XP_011517019.1:p.Leu1958=
NM_017617.5:c.6573G>A MANE Select	NP_060087.3:p.Leu2191=
XM_011518717.2:c.5850G>A	XP_011517019.2:p.Leu1950=