Canonical Allele Identifier: CA375633850

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321593
• MyVariant Identifiers: chr9:g.139393383T>C (hg19) ; chr9:g.136498931T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498931T>C , CM000671.2:g.136498931T>C	GRCh38
NC_000009.11:g.139393383T>C , CM000671.1:g.139393383T>C	GRCh37
NC_000009.10:g.138513204T>C	NCBI36
NG_007458.1:g.51856A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6148A>G MANE Select	ENSP00000498587.1:p.Asn2050Asp
ENST00000679595.1:c.*1188A>G	ENSP00000506241.1:n.*1188A>G
ENST00000679969.1:n.2744A>G
ENST00000680003.1:n.2480A>G
ENST00000680133.1:c.6034A>G	ENSP00000505319.1:p.Asn2012Asp
ENST00000680218.1:c.6028A>G	ENSP00000505339.1:p.Asn2010Asp
ENST00000680668.1:c.6034A>G	ENSP00000506336.1:p.Asn2012Asp
ENST00000680778.1:c.3745A>G	ENSP00000506033.1:p.Asn1249Asp
ENST00000680924.1:c.*3548A>G	ENSP00000506031.1:n.*3548A>G
ENST00000681135.1:c.*3757A>G	ENSP00000506636.1:n.*3757A>G
ENST00000681298.1:n.4253A>G
ENST00000681454.1:c.*5384A>G	ENSP00000505763.1:n.*5384A>G
ENST00000277541.6:c.6148A>G	ENSP00000277541.6:p.Asn2050Asp
NM_017617.3:c.6148A>G	NP_060087.3:p.Asn2050Asp
XM_011518717.1:c.5449A>G	XP_011517019.1:p.Asn1817Asp
NM_017617.5:c.6148A>G MANE Select	NP_060087.3:p.Asn2050Asp
XM_011518717.2:c.5425A>G	XP_011517019.2:p.Asn1809Asp