Canonical Allele Identifier: CA375644951

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1554727850
• gnomAD v4: 9-136504893-G-T
• MyVariant Identifiers: chr9:g.139399345G>T (hg19) ; chr9:g.136504893G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504893G>T , CM000671.2:g.136504893G>T	GRCh38
NC_000009.11:g.139399345G>T , CM000671.1:g.139399345G>T	GRCh37
NC_000009.10:g.138519166G>T	NCBI36
NG_007458.1:g.45894C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2605C>A
ENST00000651671.1:c.4798C>A MANE Select	ENSP00000498587.1:p.Leu1600Met
ENST00000679595.1:c.4798C>A	ENSP00000506241.1:p.Leu1600Met
ENST00000680133.1:c.4684C>A	ENSP00000505319.1:p.Leu1562Met
ENST00000680218.1:c.4678C>A	ENSP00000505339.1:p.Leu1560Met
ENST00000680668.1:c.4684C>A	ENSP00000506336.1:p.Leu1562Met
ENST00000680778.1:c.2395C>A	ENSP00000506033.1:p.Leu799Met
ENST00000680924.1:c.*2198C>A	ENSP00000506031.1:n.*2198C>A
ENST00000681135.1:c.*2407C>A	ENSP00000506636.1:n.*2407C>A
ENST00000681298.1:n.1611C>A
ENST00000681454.1:c.*4034C>A	ENSP00000505763.1:n.*4034C>A
ENST00000277541.6:c.4798C>A	ENSP00000277541.6:p.Leu1600Met
NM_017617.3:c.4798C>A	NP_060087.3:p.Leu1600Met
XM_011518717.1:c.4099C>A	XP_011517019.1:p.Leu1367Met
NM_017617.5:c.4798C>A MANE Select	NP_060087.3:p.Leu1600Met
XM_011518717.2:c.4075C>A	XP_011517019.2:p.Leu1359Met