Canonical Allele Identifier: CA375645772

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337588
• gnomAD v4: 9-136505043-T-C
• MyVariant Identifiers: chr9:g.139399495T>C (hg19) ; chr9:g.136505043T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505043T>C , CM000671.2:g.136505043T>C	GRCh38
NC_000009.11:g.139399495T>C , CM000671.1:g.139399495T>C	GRCh37
NC_000009.10:g.138519316T>C	NCBI36
NG_007458.1:g.45744A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2455A>G
ENST00000651671.1:c.4648A>G MANE Select	ENSP00000498587.1:p.Asn1550Asp
ENST00000679595.1:c.4648A>G	ENSP00000506241.1:p.Asn1550Asp
ENST00000680133.1:c.4534A>G	ENSP00000505319.1:p.Asn1512Asp
ENST00000680218.1:c.4528A>G	ENSP00000505339.1:p.Asn1510Asp
ENST00000680668.1:c.4534A>G	ENSP00000506336.1:p.Asn1512Asp
ENST00000680778.1:c.2245A>G	ENSP00000506033.1:p.Asn749Asp
ENST00000680924.1:c.*2048A>G	ENSP00000506031.1:n.*2048A>G
ENST00000681135.1:c.*2257A>G	ENSP00000506636.1:n.*2257A>G
ENST00000681298.1:n.1461A>G
ENST00000681454.1:c.*3884A>G	ENSP00000505763.1:n.*3884A>G
ENST00000277541.6:c.4648A>G	ENSP00000277541.6:p.Asn1550Asp
NM_017617.3:c.4648A>G	NP_060087.3:p.Asn1550Asp
XM_011518717.1:c.3949A>G	XP_011517019.1:p.Asn1317Asp
NM_017617.5:c.4648A>G MANE Select	NP_060087.3:p.Asn1550Asp
XM_011518717.2:c.3925A>G	XP_011517019.2:p.Asn1309Asp