Canonical Allele Identifier: CA5340014

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 415421
• ClinVar RCV Id: RCV000463857 ; RCV002270541 ; RCV001707703 ; RCV004022967 ; RCV004535475
• dbSNP Id: rs201625763
• ExAC: 9:139393411 A / G
• gnomAD v2: 9-139393411-A-G
• gnomAD v3: 9-136498959-A-G
• gnomAD v4: 9-136498959-A-G
• MyVariant Identifiers: chr9:g.139393411A>G (hg19) ; chr9:g.136498959A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498959A>G , CM000671.2:g.136498959A>G	GRCh38
NC_000009.11:g.139393411A>G , CM000671.1:g.139393411A>G	GRCh37
NC_000009.10:g.138513232A>G	NCBI36
NG_007458.1:g.51828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6120T>C MANE Select	ENSP00000498587.1:p.Asn2040=
ENST00000679595.1:c.*1160T>C	ENSP00000506241.1:n.*1160T>C
ENST00000679969.1:n.2716T>C
ENST00000680003.1:n.2452T>C
ENST00000680133.1:c.6006T>C	ENSP00000505319.1:p.Asn2002=
ENST00000680218.1:c.6000T>C	ENSP00000505339.1:p.Asn2000=
ENST00000680668.1:c.6006T>C	ENSP00000506336.1:p.Asn2002=
ENST00000680778.1:c.3717T>C	ENSP00000506033.1:p.Asn1239=
ENST00000680924.1:c.*3520T>C	ENSP00000506031.1:n.*3520T>C
ENST00000681135.1:c.*3729T>C	ENSP00000506636.1:n.*3729T>C
ENST00000681298.1:n.4225T>C
ENST00000681454.1:c.*5356T>C	ENSP00000505763.1:n.*5356T>C
ENST00000277541.6:c.6120T>C	ENSP00000277541.6:p.Asn2040=
NM_017617.3:c.6120T>C	NP_060087.3:p.Asn2040=
XM_011518717.1:c.5421T>C	XP_011517019.1:p.Asn1807=
NM_017617.5:c.6120T>C MANE Select	NP_060087.3:p.Asn2040=
XM_011518717.2:c.5397T>C	XP_011517019.2:p.Asn1799=