Canonical Allele Identifier: CA375564328

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136518143-A-G
• MyVariant Identifiers: chr9:g.139412595A>G (hg19) ; chr9:g.136518143A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518143A>G , CM000671.2:g.136518143A>G	GRCh38
NC_000009.11:g.139412595A>G , CM000671.1:g.139412595A>G	GRCh37
NC_000009.10:g.138532416A>G	NCBI36
NG_007458.1:g.32644T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1249T>C MANE Select	ENSP00000498587.1:p.Ser417Pro
ENST00000679595.1:c.1249T>C	ENSP00000506241.1:p.Ser417Pro
ENST00000680133.1:c.1249T>C	ENSP00000505319.1:p.Ser417Pro
ENST00000680218.1:c.1249T>C	ENSP00000505339.1:p.Ser417Pro
ENST00000680668.1:c.1249T>C	ENSP00000506336.1:p.Ser417Pro
ENST00000680924.1:c.1249T>C	ENSP00000506031.1:p.Ser417Pro
ENST00000681135.1:c.1249T>C	ENSP00000506636.1:p.Ser417Pro
ENST00000681454.1:c.*485T>C	ENSP00000505763.1:n.*485T>C
ENST00000277541.6:c.1249T>C	ENSP00000277541.6:p.Ser417Pro
NM_017617.3:c.1249T>C	NP_060087.3:p.Ser417Pro
XM_011518717.1:c.550T>C	XP_011517019.1:p.Ser184Pro
NM_017617.5:c.1249T>C MANE Select	NP_060087.3:p.Ser417Pro
XM_011518717.2:c.526T>C	XP_011517019.2:p.Ser176Pro