Canonical Allele Identifier: CA5340493

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1538676
• ClinVar RCV Id: RCV002162107 ; RCV004543699
• dbSNP Id: rs535702482
• ExAC: 9:139399222 G / A
• gnomAD v2: 9-139399222-G-A
• gnomAD v3: 9-136504770-G-A
• gnomAD v4: 9-136504770-G-A
• COSMIC: COSM308590
• MyVariant Identifiers: chr9:g.139399222G>A (hg19) ; chr9:g.136504770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504770G>A , CM000671.2:g.136504770G>A	GRCh38
NC_000009.11:g.139399222G>A , CM000671.1:g.139399222G>A	GRCh37
NC_000009.10:g.138519043G>A	NCBI36
NG_007458.1:g.46017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2728C>T
ENST00000651671.1:c.4921C>T MANE Select	ENSP00000498587.1:p.Pro1641Ser
ENST00000679595.1:c.4921C>T	ENSP00000506241.1:p.Pro1641Ser
ENST00000680133.1:c.4807C>T	ENSP00000505319.1:p.Pro1603Ser
ENST00000680218.1:c.4801C>T	ENSP00000505339.1:p.Pro1601Ser
ENST00000680668.1:c.4807C>T	ENSP00000506336.1:p.Pro1603Ser
ENST00000680778.1:c.2518C>T	ENSP00000506033.1:p.Pro840Ser
ENST00000680924.1:c.*2321C>T	ENSP00000506031.1:n.*2321C>T
ENST00000681135.1:c.*2530C>T	ENSP00000506636.1:n.*2530C>T
ENST00000681298.1:n.1734C>T
ENST00000681454.1:c.*4157C>T	ENSP00000505763.1:n.*4157C>T
ENST00000277541.6:c.4921C>T	ENSP00000277541.6:p.Pro1641Ser
ENST00000494783.1:n.76C>T
NM_017617.3:c.4921C>T	NP_060087.3:p.Pro1641Ser
XM_011518717.1:c.4222C>T	XP_011517019.1:p.Pro1408Ser
NM_017617.5:c.4921C>T MANE Select	NP_060087.3:p.Pro1641Ser
XM_011518717.2:c.4198C>T	XP_011517019.2:p.Pro1400Ser