Canonical Allele Identifier: CA467741936

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504723-G-A
• COSMIC: COSM308592
• MyVariant Identifiers: chr9:g.139399175G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504723G>A , CM000671.2:g.136504723G>A	GRCh38
NC_000009.11:g.139399175G>A , CM000671.1:g.139399175G>A	GRCh37
NC_000009.10:g.138518996G>A	NCBI36
NG_007458.1:g.46064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2775C>T
ENST00000651671.1:c.4968C>T MANE Select	ENSP00000498587.1:p.Gly1656=
ENST00000679595.1:c.4968C>T	ENSP00000506241.1:p.Gly1656=
ENST00000680133.1:c.4854C>T	ENSP00000505319.1:p.Gly1618=
ENST00000680218.1:c.4848C>T	ENSP00000505339.1:p.Gly1616=
ENST00000680668.1:c.4854C>T	ENSP00000506336.1:p.Gly1618=
ENST00000680778.1:c.2565C>T	ENSP00000506033.1:p.Gly855=
ENST00000680924.1:c.*2368C>T	ENSP00000506031.1:n.*2368C>T
ENST00000681135.1:c.*2577C>T	ENSP00000506636.1:n.*2577C>T
ENST00000681298.1:n.1781C>T
ENST00000681454.1:c.*4204C>T	ENSP00000505763.1:n.*4204C>T
ENST00000277541.6:c.4968C>T	ENSP00000277541.6:p.Gly1656=
ENST00000494783.1:n.123C>T
NM_017617.3:c.4968C>T	NP_060087.3:p.Gly1656=
XM_011518717.1:c.4269C>T	XP_011517019.1:p.Gly1423=
NM_017617.5:c.4968C>T MANE Select	NP_060087.3:p.Gly1656=
XM_011518717.2:c.4245C>T	XP_011517019.2:p.Gly1415=