Canonical Allele Identifier: CA375644057

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1843049319
• MyVariant Identifiers: chr9:g.139399146A>T (hg19) ; chr9:g.136504694A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504694A>T , CM000671.2:g.136504694A>T	GRCh38
NC_000009.11:g.139399146A>T , CM000671.1:g.139399146A>T	GRCh37
NC_000009.10:g.138518967A>T	NCBI36
NG_007458.1:g.46093T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2804T>A
ENST00000651671.1:c.4997T>A MANE Select	ENSP00000498587.1:p.Leu1666Gln
ENST00000679595.1:c.4997T>A	ENSP00000506241.1:p.Leu1666Gln
ENST00000680133.1:c.4883T>A	ENSP00000505319.1:p.Leu1628Gln
ENST00000680218.1:c.4877T>A	ENSP00000505339.1:p.Leu1626Gln
ENST00000680668.1:c.4883T>A	ENSP00000506336.1:p.Leu1628Gln
ENST00000680778.1:c.2594T>A	ENSP00000506033.1:p.Leu865Gln
ENST00000680924.1:c.*2397T>A	ENSP00000506031.1:n.*2397T>A
ENST00000681135.1:c.*2606T>A	ENSP00000506636.1:n.*2606T>A
ENST00000681298.1:n.1810T>A
ENST00000681454.1:c.*4233T>A	ENSP00000505763.1:n.*4233T>A
ENST00000277541.6:c.4997T>A	ENSP00000277541.6:p.Leu1666Gln
ENST00000494783.1:n.152T>A
NM_017617.3:c.4997T>A	NP_060087.3:p.Leu1666Gln
XM_011518717.1:c.4298T>A	XP_011517019.1:p.Leu1433Gln
NM_017617.5:c.4997T>A MANE Select	NP_060087.3:p.Leu1666Gln
XM_011518717.2:c.4274T>A	XP_011517019.2:p.Leu1425Gln