Canonical Allele Identifier: CA375644736

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1743509
• ClinVar RCV Id: RCV002338145
• dbSNP Id: rs1277460659
• gnomAD v2: 9-139399302-T-A
• gnomAD v4: 9-136504850-T-A
• MyVariant Identifiers: chr9:g.139399302T>A (hg19) ; chr9:g.136504850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504850T>A , CM000671.2:g.136504850T>A	GRCh38
NC_000009.11:g.139399302T>A , CM000671.1:g.139399302T>A	GRCh37
NC_000009.10:g.138519123T>A	NCBI36
NG_007458.1:g.45937A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2648A>T
ENST00000651671.1:c.4841A>T MANE Select	ENSP00000498587.1:p.Gln1614Leu
ENST00000679595.1:c.4841A>T	ENSP00000506241.1:p.Gln1614Leu
ENST00000680133.1:c.4727A>T	ENSP00000505319.1:p.Gln1576Leu
ENST00000680218.1:c.4721A>T	ENSP00000505339.1:p.Gln1574Leu
ENST00000680668.1:c.4727A>T	ENSP00000506336.1:p.Gln1576Leu
ENST00000680778.1:c.2438A>T	ENSP00000506033.1:p.Gln813Leu
ENST00000680924.1:c.*2241A>T	ENSP00000506031.1:n.*2241A>T
ENST00000681135.1:c.*2450A>T	ENSP00000506636.1:n.*2450A>T
ENST00000681298.1:n.1654A>T
ENST00000681454.1:c.*4077A>T	ENSP00000505763.1:n.*4077A>T
ENST00000277541.6:c.4841A>T	ENSP00000277541.6:p.Gln1614Leu
NM_017617.3:c.4841A>T	NP_060087.3:p.Gln1614Leu
XM_011518717.1:c.4142A>T	XP_011517019.1:p.Gln1381Leu
NM_017617.5:c.4841A>T MANE Select	NP_060087.3:p.Gln1614Leu
XM_011518717.2:c.4118A>T	XP_011517019.2:p.Gln1373Leu