Canonical Allele Identifier: CA375643897

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 477937
• ClinVar RCV Id: RCV000533504 ; RCV002270699 ; RCV002315053 ; RCV003159134
• dbSNP Id: rs1226514285
• gnomAD v2: 9-139399126-C-T
• gnomAD v3: 9-136504674-C-T
• gnomAD v4: 9-136504674-C-T
• MyVariant Identifiers: chr9:g.139399126C>T (hg19) ; chr9:g.136504674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504674C>T , CM000671.2:g.136504674C>T	GRCh38
NC_000009.11:g.139399126C>T , CM000671.1:g.139399126C>T	GRCh37
NC_000009.10:g.138518947C>T	NCBI36
NG_007458.1:g.46113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2824G>A
ENST00000651671.1:c.5017G>A MANE Select	ENSP00000498587.1:p.Gly1673Ser
ENST00000679595.1:c.5017G>A	ENSP00000506241.1:p.Gly1673Ser
ENST00000680133.1:c.4903G>A	ENSP00000505319.1:p.Gly1635Ser
ENST00000680218.1:c.4897G>A	ENSP00000505339.1:p.Gly1633Ser
ENST00000680668.1:c.4903G>A	ENSP00000506336.1:p.Gly1635Ser
ENST00000680778.1:c.2614G>A	ENSP00000506033.1:p.Gly872Ser
ENST00000680924.1:c.*2417G>A	ENSP00000506031.1:n.*2417G>A
ENST00000681135.1:c.*2626G>A	ENSP00000506636.1:n.*2626G>A
ENST00000681298.1:n.1830G>A
ENST00000681454.1:c.*4253G>A	ENSP00000505763.1:n.*4253G>A
ENST00000277541.6:c.5017G>A	ENSP00000277541.6:p.Gly1673Ser
ENST00000494783.1:n.172G>A
NM_017617.3:c.5017G>A	NP_060087.3:p.Gly1673Ser
XM_011518717.1:c.4318G>A	XP_011517019.1:p.Gly1440Ser
NM_017617.5:c.5017G>A MANE Select	NP_060087.3:p.Gly1673Ser
XM_011518717.2:c.4294G>A	XP_011517019.2:p.Gly1432Ser