Canonical Allele Identifier: CA375644548

Gene: NOTCH1

Linked Data

• dbSNP Id: rs946083212
• gnomAD v4: 9-136504811-C-A
• MyVariant Identifiers: chr9:g.139399263C>A (hg19) ; chr9:g.136504811C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504811C>A , CM000671.2:g.136504811C>A	GRCh38
NC_000009.11:g.139399263C>A , CM000671.1:g.139399263C>A	GRCh37
NC_000009.10:g.138519084C>A	NCBI36
NG_007458.1:g.45976G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2687G>T
ENST00000651671.1:c.4880G>T MANE Select	ENSP00000498587.1:p.Arg1627Leu
ENST00000679595.1:c.4880G>T	ENSP00000506241.1:p.Arg1627Leu
ENST00000680133.1:c.4766G>T	ENSP00000505319.1:p.Arg1589Leu
ENST00000680218.1:c.4760G>T	ENSP00000505339.1:p.Arg1587Leu
ENST00000680668.1:c.4766G>T	ENSP00000506336.1:p.Arg1589Leu
ENST00000680778.1:c.2477G>T	ENSP00000506033.1:p.Arg826Leu
ENST00000680924.1:c.*2280G>T	ENSP00000506031.1:n.*2280G>T
ENST00000681135.1:c.*2489G>T	ENSP00000506636.1:n.*2489G>T
ENST00000681298.1:n.1693G>T
ENST00000681454.1:c.*4116G>T	ENSP00000505763.1:n.*4116G>T
ENST00000277541.6:c.4880G>T	ENSP00000277541.6:p.Arg1627Leu
ENST00000494783.1:n.35G>T
NM_017617.3:c.4880G>T	NP_060087.3:p.Arg1627Leu
XM_011518717.1:c.4181G>T	XP_011517019.1:p.Arg1394Leu
NM_017617.5:c.4880G>T MANE Select	NP_060087.3:p.Arg1627Leu
XM_011518717.2:c.4157G>T	XP_011517019.2:p.Arg1386Leu