Canonical Allele Identifier: CA375644564

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336289
• gnomAD v4: 9-136504814-A-T
• MyVariant Identifiers: chr9:g.139399266A>T (hg19) ; chr9:g.136504814A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504814A>T , CM000671.2:g.136504814A>T	GRCh38
NC_000009.11:g.139399266A>T , CM000671.1:g.139399266A>T	GRCh37
NC_000009.10:g.138519087A>T	NCBI36
NG_007458.1:g.45973T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2684T>A
ENST00000651671.1:c.4877T>A MANE Select	ENSP00000498587.1:p.Leu1626Gln
ENST00000679595.1:c.4877T>A	ENSP00000506241.1:p.Leu1626Gln
ENST00000680133.1:c.4763T>A	ENSP00000505319.1:p.Leu1588Gln
ENST00000680218.1:c.4757T>A	ENSP00000505339.1:p.Leu1586Gln
ENST00000680668.1:c.4763T>A	ENSP00000506336.1:p.Leu1588Gln
ENST00000680778.1:c.2474T>A	ENSP00000506033.1:p.Leu825Gln
ENST00000680924.1:c.*2277T>A	ENSP00000506031.1:n.*2277T>A
ENST00000681135.1:c.*2486T>A	ENSP00000506636.1:n.*2486T>A
ENST00000681298.1:n.1690T>A
ENST00000681454.1:c.*4113T>A	ENSP00000505763.1:n.*4113T>A
ENST00000277541.6:c.4877T>A	ENSP00000277541.6:p.Leu1626Gln
ENST00000494783.1:n.32T>A
NM_017617.3:c.4877T>A	NP_060087.3:p.Leu1626Gln
XM_011518717.1:c.4178T>A	XP_011517019.1:p.Leu1393Gln
NM_017617.5:c.4877T>A MANE Select	NP_060087.3:p.Leu1626Gln
XM_011518717.2:c.4154T>A	XP_011517019.2:p.Leu1385Gln