Canonical Allele Identifier: CA467738540

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322753
• MyVariant Identifiers: chr9:g.139393613C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499161C>A , CM000671.2:g.136499161C>A	GRCh38
NC_000009.11:g.139393613C>A , CM000671.1:g.139393613C>A	GRCh37
NC_000009.10:g.138513434C>A	NCBI36
NG_007458.1:g.51626G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6033G>T MANE Select	ENSP00000498587.1:p.Leu2011=
ENST00000679595.1:c.*1073G>T	ENSP00000506241.1:n.*1073G>T
ENST00000679969.1:n.2514G>T
ENST00000680003.1:n.2365G>T
ENST00000680133.1:c.5919G>T	ENSP00000505319.1:p.Leu1973=
ENST00000680218.1:c.5913G>T	ENSP00000505339.1:p.Leu1971=
ENST00000680668.1:c.5919G>T	ENSP00000506336.1:p.Leu1973=
ENST00000680778.1:c.3630G>T	ENSP00000506033.1:p.Leu1210=
ENST00000680924.1:c.*3433G>T	ENSP00000506031.1:n.*3433G>T
ENST00000681135.1:c.*3642G>T	ENSP00000506636.1:n.*3642G>T
ENST00000681298.1:n.4138G>T
ENST00000681454.1:c.*5269G>T	ENSP00000505763.1:n.*5269G>T
ENST00000277541.6:c.6033G>T	ENSP00000277541.6:p.Leu2011=
NM_017617.3:c.6033G>T	NP_060087.3:p.Leu2011=
XM_011518717.1:c.5334G>T	XP_011517019.1:p.Leu1778=
NM_017617.5:c.6033G>T MANE Select	NP_060087.3:p.Leu2011=
XM_011518717.2:c.5310G>T	XP_011517019.2:p.Leu1770=