Canonical Allele Identifier: CA467832591

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318759
• MyVariant Identifiers: chr9:g.139391786C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497334C>G , CM000671.2:g.136497334C>G	GRCh38
NC_000009.11:g.139391786C>G , CM000671.1:g.139391786C>G	GRCh37
NC_000009.10:g.138511607C>G	NCBI36
NG_007458.1:g.53453G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6405G>C MANE Select	ENSP00000498587.1:p.Leu2135=
ENST00000679595.1:c.*1445G>C	ENSP00000506241.1:n.*1445G>C
ENST00000679969.1:n.3001G>C
ENST00000680003.1:n.2737G>C
ENST00000680133.1:c.6291G>C	ENSP00000505319.1:p.Leu2097=
ENST00000680218.1:c.6285G>C	ENSP00000505339.1:p.Leu2095=
ENST00000680668.1:c.6291G>C	ENSP00000506336.1:p.Leu2097=
ENST00000680778.1:c.4002G>C	ENSP00000506033.1:p.Leu1334=
ENST00000680924.1:c.*3805G>C	ENSP00000506031.1:n.*3805G>C
ENST00000681135.1:c.*4014G>C	ENSP00000506636.1:n.*4014G>C
ENST00000681298.1:n.4510G>C
ENST00000681454.1:c.*5641G>C	ENSP00000505763.1:n.*5641G>C
ENST00000277541.6:c.6405G>C	ENSP00000277541.6:p.Leu2135=
NM_017617.3:c.6405G>C	NP_060087.3:p.Leu2135=
XM_011518717.1:c.5706G>C	XP_011517019.1:p.Leu1902=
NM_017617.5:c.6405G>C MANE Select	NP_060087.3:p.Leu2135=
XM_011518717.2:c.5682G>C	XP_011517019.2:p.Leu1894=