Canonical Allele Identifier: CA375634024

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321793
• MyVariant Identifiers: chr9:g.139393416T>C (hg19) ; chr9:g.136498964T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498964T>C , CM000671.2:g.136498964T>C	GRCh38
NC_000009.11:g.139393416T>C , CM000671.1:g.139393416T>C	GRCh37
NC_000009.10:g.138513237T>C	NCBI36
NG_007458.1:g.51823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6115A>G MANE Select	ENSP00000498587.1:p.Asn2039Asp
ENST00000679595.1:c.*1155A>G	ENSP00000506241.1:n.*1155A>G
ENST00000679969.1:n.2711A>G
ENST00000680003.1:n.2447A>G
ENST00000680133.1:c.6001A>G	ENSP00000505319.1:p.Asn2001Asp
ENST00000680218.1:c.5995A>G	ENSP00000505339.1:p.Asn1999Asp
ENST00000680668.1:c.6001A>G	ENSP00000506336.1:p.Asn2001Asp
ENST00000680778.1:c.3712A>G	ENSP00000506033.1:p.Asn1238Asp
ENST00000680924.1:c.*3515A>G	ENSP00000506031.1:n.*3515A>G
ENST00000681135.1:c.*3724A>G	ENSP00000506636.1:n.*3724A>G
ENST00000681298.1:n.4220A>G
ENST00000681454.1:c.*5351A>G	ENSP00000505763.1:n.*5351A>G
ENST00000277541.6:c.6115A>G	ENSP00000277541.6:p.Asn2039Asp
NM_017617.3:c.6115A>G	NP_060087.3:p.Asn2039Asp
XM_011518717.1:c.5416A>G	XP_011517019.1:p.Asn1806Asp
NM_017617.5:c.6115A>G MANE Select	NP_060087.3:p.Asn2039Asp
XM_011518717.2:c.5392A>G	XP_011517019.2:p.Asn1798Asp