Canonical Allele Identifier: CA591181318

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1179155378
• gnomAD v2: 9-139399102-C-T
• gnomAD v3: 9-136504650-C-T
• gnomAD v4: 9-136504650-C-T
• MyVariant Identifiers: chr9:g.139399102C>T (hg19) ; chr9:g.136504650C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504650C>T , CM000671.2:g.136504650C>T	GRCh38
NC_000009.11:g.139399102C>T , CM000671.1:g.139399102C>T	GRCh37
NC_000009.10:g.138518923C>T	NCBI36
NG_007458.1:g.46137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2825+23G>A
ENST00000651671.1:c.5018+23G>A MANE Select	ENSP00000498587.1:n.5018+23G>A
ENST00000679595.1:c.5018+23G>A	ENSP00000506241.1:n.5018+23G>A
ENST00000680133.1:c.4904+23G>A	ENSP00000505319.1:n.4904+23G>A
ENST00000680218.1:c.4898+23G>A	ENSP00000505339.1:n.4898+23G>A
ENST00000680668.1:c.4904+23G>A	ENSP00000506336.1:n.4904+23G>A
ENST00000680778.1:c.2615+23G>A	ENSP00000506033.1:n.2615+23G>A
ENST00000680924.1:c.*2418+23G>A	ENSP00000506031.1:n.*2418+23G>A
ENST00000681135.1:c.*2627+23G>A	ENSP00000506636.1:n.*2627+23G>A
ENST00000681298.1:n.1831+23G>A
ENST00000681454.1:c.*4254+23G>A	ENSP00000505763.1:n.*4254+23G>A
ENST00000277541.6:c.5018+23G>A	ENSP00000277541.6:n.5018+23G>A
ENST00000494783.1:n.173+23G>A
NM_017617.3:c.5018+23G>A	NP_060087.3:n.5018+23G>A
XM_011518717.1:c.4319+23G>A	XP_011517019.1:n.4319+23G>A
NM_017617.5:c.5018+23G>A MANE Select	NP_060087.3:n.5018+23G>A
XM_011518717.2:c.4295+23G>A	XP_011517019.2:n.4295+23G>A