Canonical Allele Identifier: CA467742024

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504744-C-T
• MyVariant Identifiers: chr9:g.139399196C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504744C>T , CM000671.2:g.136504744C>T	GRCh38
NC_000009.11:g.139399196C>T , CM000671.1:g.139399196C>T	GRCh37
NC_000009.10:g.138519017C>T	NCBI36
NG_007458.1:g.46043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2754G>A
ENST00000651671.1:c.4947G>A MANE Select	ENSP00000498587.1:p.Lys1649=
ENST00000679595.1:c.4947G>A	ENSP00000506241.1:p.Lys1649=
ENST00000680133.1:c.4833G>A	ENSP00000505319.1:p.Lys1611=
ENST00000680218.1:c.4827G>A	ENSP00000505339.1:p.Lys1609=
ENST00000680668.1:c.4833G>A	ENSP00000506336.1:p.Lys1611=
ENST00000680778.1:c.2544G>A	ENSP00000506033.1:p.Lys848=
ENST00000680924.1:c.*2347G>A	ENSP00000506031.1:n.*2347G>A
ENST00000681135.1:c.*2556G>A	ENSP00000506636.1:n.*2556G>A
ENST00000681298.1:n.1760G>A
ENST00000681454.1:c.*4183G>A	ENSP00000505763.1:n.*4183G>A
ENST00000277541.6:c.4947G>A	ENSP00000277541.6:p.Lys1649=
ENST00000494783.1:n.102G>A
NM_017617.3:c.4947G>A	NP_060087.3:p.Lys1649=
XM_011518717.1:c.4248G>A	XP_011517019.1:p.Lys1416=
NM_017617.5:c.4947G>A MANE Select	NP_060087.3:p.Lys1649=
XM_011518717.2:c.4224G>A	XP_011517019.2:p.Lys1408=