Canonical Allele Identifier: CA375555512

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1792117
• ClinVar RCV Id: RCV002430985
• dbSNP Id: rs1843177468
• gnomAD v3: 9-136511245-G-A
• gnomAD v4: 9-136511245-G-A
• MyVariant Identifiers: chr9:g.139405697G>A (hg19) ; chr9:g.136511245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511245G>A , CM000671.2:g.136511245G>A	GRCh38
NC_000009.11:g.139405697G>A , CM000671.1:g.139405697G>A	GRCh37
NC_000009.10:g.138525518G>A	NCBI36
NG_007458.1:g.39542C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.301C>T
ENST00000646957.2:n.117C>T
ENST00000651671.1:c.2494C>T MANE Select	ENSP00000498587.1:p.Pro832Ser
ENST00000679595.1:c.2494C>T	ENSP00000506241.1:p.Pro832Ser
ENST00000680133.1:c.2380C>T	ENSP00000505319.1:p.Pro794Ser
ENST00000680218.1:c.2494C>T	ENSP00000505339.1:p.Pro832Ser
ENST00000680668.1:c.2380C>T	ENSP00000506336.1:p.Pro794Ser
ENST00000680778.1:c.91C>T	ENSP00000506033.1:p.Pro31Ser
ENST00000680924.1:c.2494C>T	ENSP00000506031.1:p.Pro832Ser
ENST00000681135.1:c.*103C>T	ENSP00000506636.1:n.*103C>T
ENST00000681454.1:c.*1730C>T	ENSP00000505763.1:n.*1730C>T
ENST00000277541.6:c.2494C>T	ENSP00000277541.6:p.Pro832Ser
NM_017617.3:c.2494C>T	NP_060087.3:p.Pro832Ser
XM_011518717.1:c.1795C>T	XP_011517019.1:p.Pro599Ser
NM_017617.5:c.2494C>T MANE Select	NP_060087.3:p.Pro832Ser
XM_011518717.2:c.1771C>T	XP_011517019.2:p.Pro591Ser