Canonical Allele Identifier: CA375644498

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336219
• gnomAD v4: 9-136504802-G-A
• MyVariant Identifiers: chr9:g.139399254G>A (hg19) ; chr9:g.136504802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504802G>A , CM000671.2:g.136504802G>A	GRCh38
NC_000009.11:g.139399254G>A , CM000671.1:g.139399254G>A	GRCh37
NC_000009.10:g.138519075G>A	NCBI36
NG_007458.1:g.45985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2696C>T
ENST00000651671.1:c.4889C>T MANE Select	ENSP00000498587.1:p.Pro1630Leu
ENST00000679595.1:c.4889C>T	ENSP00000506241.1:p.Pro1630Leu
ENST00000680133.1:c.4775C>T	ENSP00000505319.1:p.Pro1592Leu
ENST00000680218.1:c.4769C>T	ENSP00000505339.1:p.Pro1590Leu
ENST00000680668.1:c.4775C>T	ENSP00000506336.1:p.Pro1592Leu
ENST00000680778.1:c.2486C>T	ENSP00000506033.1:p.Pro829Leu
ENST00000680924.1:c.*2289C>T	ENSP00000506031.1:n.*2289C>T
ENST00000681135.1:c.*2498C>T	ENSP00000506636.1:n.*2498C>T
ENST00000681298.1:n.1702C>T
ENST00000681454.1:c.*4125C>T	ENSP00000505763.1:n.*4125C>T
ENST00000277541.6:c.4889C>T	ENSP00000277541.6:p.Pro1630Leu
ENST00000494783.1:n.44C>T
NM_017617.3:c.4889C>T	NP_060087.3:p.Pro1630Leu
XM_011518717.1:c.4190C>T	XP_011517019.1:p.Pro1397Leu
NM_017617.5:c.4889C>T MANE Select	NP_060087.3:p.Pro1630Leu
XM_011518717.2:c.4166C>T	XP_011517019.2:p.Pro1389Leu