Canonical Allele Identifier: CA375644763

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504856-C-A
• MyVariant Identifiers: chr9:g.139399308C>A (hg19) ; chr9:g.136504856C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504856C>A , CM000671.2:g.136504856C>A	GRCh38
NC_000009.11:g.139399308C>A , CM000671.1:g.139399308C>A	GRCh37
NC_000009.10:g.138519129C>A	NCBI36
NG_007458.1:g.45931G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2642G>T
ENST00000651671.1:c.4835G>T MANE Select	ENSP00000498587.1:p.Gly1612Val
ENST00000679595.1:c.4835G>T	ENSP00000506241.1:p.Gly1612Val
ENST00000680133.1:c.4721G>T	ENSP00000505319.1:p.Gly1574Val
ENST00000680218.1:c.4715G>T	ENSP00000505339.1:p.Gly1572Val
ENST00000680668.1:c.4721G>T	ENSP00000506336.1:p.Gly1574Val
ENST00000680778.1:c.2432G>T	ENSP00000506033.1:p.Gly811Val
ENST00000680924.1:c.*2235G>T	ENSP00000506031.1:n.*2235G>T
ENST00000681135.1:c.*2444G>T	ENSP00000506636.1:n.*2444G>T
ENST00000681298.1:n.1648G>T
ENST00000681454.1:c.*4071G>T	ENSP00000505763.1:n.*4071G>T
ENST00000277541.6:c.4835G>T	ENSP00000277541.6:p.Gly1612Val
NM_017617.3:c.4835G>T	NP_060087.3:p.Gly1612Val
XM_011518717.1:c.4136G>T	XP_011517019.1:p.Gly1379Val
NM_017617.5:c.4835G>T MANE Select	NP_060087.3:p.Gly1612Val
XM_011518717.2:c.4112G>T	XP_011517019.2:p.Gly1371Val