Canonical Allele Identifier: CA5340492

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2742667
• ClinVar RCV Id: RCV003587538
• dbSNP Id: rs764897579
• ExAC: 9:139399217 G / A
• gnomAD v2: 9-139399217-G-A
• gnomAD v3: 9-136504765-G-A
• gnomAD v4: 9-136504765-G-A
• COSMIC: COSM4639624 ; COSM4639625
• MyVariant Identifiers: chr9:g.139399217G>A (hg19) ; chr9:g.136504765G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504765G>A , CM000671.2:g.136504765G>A	GRCh38
NC_000009.11:g.139399217G>A , CM000671.1:g.139399217G>A	GRCh37
NC_000009.10:g.138519038G>A	NCBI36
NG_007458.1:g.46022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2733C>T
ENST00000651671.1:c.4926C>T MANE Select	ENSP00000498587.1:p.Asp1642=
ENST00000679595.1:c.4926C>T	ENSP00000506241.1:p.Asp1642=
ENST00000680133.1:c.4812C>T	ENSP00000505319.1:p.Asp1604=
ENST00000680218.1:c.4806C>T	ENSP00000505339.1:p.Asp1602=
ENST00000680668.1:c.4812C>T	ENSP00000506336.1:p.Asp1604=
ENST00000680778.1:c.2523C>T	ENSP00000506033.1:p.Asp841=
ENST00000680924.1:c.*2326C>T	ENSP00000506031.1:n.*2326C>T
ENST00000681135.1:c.*2535C>T	ENSP00000506636.1:n.*2535C>T
ENST00000681298.1:n.1739C>T
ENST00000681454.1:c.*4162C>T	ENSP00000505763.1:n.*4162C>T
ENST00000277541.6:c.4926C>T	ENSP00000277541.6:p.Asp1642=
ENST00000494783.1:n.81C>T
NM_017617.3:c.4926C>T	NP_060087.3:p.Asp1642=
XM_011518717.1:c.4227C>T	XP_011517019.1:p.Asp1409=
NM_017617.5:c.4926C>T MANE Select	NP_060087.3:p.Asp1642=
XM_011518717.2:c.4203C>T	XP_011517019.2:p.Asp1401=