Canonical Allele Identifier: CA375631574

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1307437
• ClinVar RCV Id: RCV001760855
• dbSNP Id: rs1060502233
• MyVariant Identifiers: chr9:g.139391715C>A (hg19) ; chr9:g.136497263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497263C>A , CM000671.2:g.136497263C>A	GRCh38
NC_000009.11:g.139391715C>A , CM000671.1:g.139391715C>A	GRCh37
NC_000009.10:g.138511536C>A	NCBI36
NG_007458.1:g.53524G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6476G>T MANE Select	ENSP00000498587.1:p.Arg2159Leu
ENST00000679595.1:c.*1516G>T	ENSP00000506241.1:n.*1516G>T
ENST00000679969.1:n.3072G>T
ENST00000680003.1:n.2808G>T
ENST00000680133.1:c.6362G>T	ENSP00000505319.1:p.Arg2121Leu
ENST00000680218.1:c.6356G>T	ENSP00000505339.1:p.Arg2119Leu
ENST00000680668.1:c.6362G>T	ENSP00000506336.1:p.Arg2121Leu
ENST00000680778.1:c.4073G>T	ENSP00000506033.1:p.Arg1358Leu
ENST00000680924.1:c.*3876G>T	ENSP00000506031.1:n.*3876G>T
ENST00000681135.1:c.*4085G>T	ENSP00000506636.1:n.*4085G>T
ENST00000681298.1:n.4581G>T
ENST00000681454.1:c.*5712G>T	ENSP00000505763.1:n.*5712G>T
ENST00000277541.6:c.6476G>T	ENSP00000277541.6:p.Arg2159Leu
NM_017617.3:c.6476G>T	NP_060087.3:p.Arg2159Leu
XM_011518717.1:c.5777G>T	XP_011517019.1:p.Arg1926Leu
NM_017617.5:c.6476G>T MANE Select	NP_060087.3:p.Arg2159Leu
XM_011518717.2:c.5753G>T	XP_011517019.2:p.Arg1918Leu