Canonical Allele Identifier: CA467741908

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1589753
• ClinVar RCV Id: RCV002119462
• dbSNP Id: rs1200928521
• gnomAD v2: 9-139399139-G-A
• gnomAD v4: 9-136504687-G-A
• MyVariant Identifiers: chr9:g.139399139G>A (hg19) ; chr9:g.136504687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504687G>A , CM000671.2:g.136504687G>A	GRCh38
NC_000009.11:g.139399139G>A , CM000671.1:g.139399139G>A	GRCh37
NC_000009.10:g.138518960G>A	NCBI36
NG_007458.1:g.46100C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.2811C>T
ENST00000651671.1:c.5004C>T MANE Select	ENSP00000498587.1:p.Pro1668=
ENST00000679595.1:c.5004C>T	ENSP00000506241.1:p.Pro1668=
ENST00000680133.1:c.4890C>T	ENSP00000505319.1:p.Pro1630=
ENST00000680218.1:c.4884C>T	ENSP00000505339.1:p.Pro1628=
ENST00000680668.1:c.4890C>T	ENSP00000506336.1:p.Pro1630=
ENST00000680778.1:c.2601C>T	ENSP00000506033.1:p.Pro867=
ENST00000680924.1:c.*2404C>T	ENSP00000506031.1:n.*2404C>T
ENST00000681135.1:c.*2613C>T	ENSP00000506636.1:n.*2613C>T
ENST00000681298.1:n.1817C>T
ENST00000681454.1:c.*4240C>T	ENSP00000505763.1:n.*4240C>T
ENST00000277541.6:c.5004C>T	ENSP00000277541.6:p.Pro1668=
ENST00000494783.1:n.159C>T
NM_017617.3:c.5004C>T	NP_060087.3:p.Pro1668=
XM_011518717.1:c.4305C>T	XP_011517019.1:p.Pro1435=
NM_017617.5:c.5004C>T MANE Select	NP_060087.3:p.Pro1668=
XM_011518717.2:c.4281C>T	XP_011517019.2:p.Pro1427=