Canonical Allele Identifier: CA375645052

Gene: NOTCH1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504916A>G , CM000671.2:g.136504916A>G	GRCh38
NC_000009.11:g.139399368A>G , CM000671.1:g.139399368A>G	GRCh37
NC_000009.10:g.138519189A>G	NCBI36
NG_007458.1:g.45871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2582T>C
ENST00000651671.1:c.4775T>C MANE Select	ENSP00000498587.1:p.Phe1592Ser
ENST00000679595.1:c.4775T>C	ENSP00000506241.1:p.Phe1592Ser
ENST00000680133.1:c.4661T>C	ENSP00000505319.1:p.Phe1554Ser
ENST00000680218.1:c.4655T>C	ENSP00000505339.1:p.Phe1552Ser
ENST00000680668.1:c.4661T>C	ENSP00000506336.1:p.Phe1554Ser
ENST00000680778.1:c.2372T>C	ENSP00000506033.1:p.Phe791Ser
ENST00000680924.1:c.*2175T>C	ENSP00000506031.1:n.*2175T>C
ENST00000681135.1:c.*2384T>C	ENSP00000506636.1:n.*2384T>C
ENST00000681298.1:n.1588T>C
ENST00000681454.1:c.*4011T>C	ENSP00000505763.1:n.*4011T>C
ENST00000277541.6:c.4775T>C	ENSP00000277541.6:p.Phe1592Ser
NM_017617.3:c.4775T>C	NP_060087.3:p.Phe1592Ser
XM_011518717.1:c.4076T>C	XP_011517019.1:p.Phe1359Ser
NM_017617.5:c.4775T>C MANE Select	NP_060087.3:p.Phe1592Ser
XM_011518717.2:c.4052T>C	XP_011517019.2:p.Phe1351Ser