Canonical Allele Identifier: CA375644147

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504713-C-A
• MyVariant Identifiers: chr9:g.139399165C>A (hg19) ; chr9:g.136504713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504713C>A , CM000671.2:g.136504713C>A	GRCh38
NC_000009.11:g.139399165C>A , CM000671.1:g.139399165C>A	GRCh37
NC_000009.10:g.138518986C>A	NCBI36
NG_007458.1:g.46074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2785G>T
ENST00000651671.1:c.4978G>T MANE Select	ENSP00000498587.1:p.Gly1660Trp
ENST00000679595.1:c.4978G>T	ENSP00000506241.1:p.Gly1660Trp
ENST00000680133.1:c.4864G>T	ENSP00000505319.1:p.Gly1622Trp
ENST00000680218.1:c.4858G>T	ENSP00000505339.1:p.Gly1620Trp
ENST00000680668.1:c.4864G>T	ENSP00000506336.1:p.Gly1622Trp
ENST00000680778.1:c.2575G>T	ENSP00000506033.1:p.Gly859Trp
ENST00000680924.1:c.*2378G>T	ENSP00000506031.1:n.*2378G>T
ENST00000681135.1:c.*2587G>T	ENSP00000506636.1:n.*2587G>T
ENST00000681298.1:n.1791G>T
ENST00000681454.1:c.*4214G>T	ENSP00000505763.1:n.*4214G>T
ENST00000277541.6:c.4978G>T	ENSP00000277541.6:p.Gly1660Trp
ENST00000494783.1:n.133G>T
NM_017617.3:c.4978G>T	NP_060087.3:p.Gly1660Trp
XM_011518717.1:c.4279G>T	XP_011517019.1:p.Gly1427Trp
NM_017617.5:c.4978G>T MANE Select	NP_060087.3:p.Gly1660Trp
XM_011518717.2:c.4255G>T	XP_011517019.2:p.Gly1419Trp