Canonical Allele Identifier: CA375631175

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136497158-G-A
• MyVariant Identifiers: chr9:g.139391610G>A (hg19) ; chr9:g.136497158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497158G>A , CM000671.2:g.136497158G>A	GRCh38
NC_000009.11:g.139391610G>A , CM000671.1:g.139391610G>A	GRCh37
NC_000009.10:g.138511431G>A	NCBI36
NG_007458.1:g.53629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6581C>T MANE Select	ENSP00000498587.1:p.Ser2194Phe
ENST00000679595.1:c.*1621C>T	ENSP00000506241.1:n.*1621C>T
ENST00000679969.1:n.3177C>T
ENST00000680003.1:n.2913C>T
ENST00000680133.1:c.6467C>T	ENSP00000505319.1:p.Ser2156Phe
ENST00000680218.1:c.6461C>T	ENSP00000505339.1:p.Ser2154Phe
ENST00000680668.1:c.6467C>T	ENSP00000506336.1:p.Ser2156Phe
ENST00000680778.1:c.4178C>T	ENSP00000506033.1:p.Ser1393Phe
ENST00000680924.1:c.*3981C>T	ENSP00000506031.1:n.*3981C>T
ENST00000681135.1:c.*4190C>T	ENSP00000506636.1:n.*4190C>T
ENST00000681298.1:n.4686C>T
ENST00000681454.1:c.*5817C>T	ENSP00000505763.1:n.*5817C>T
ENST00000277541.6:c.6581C>T	ENSP00000277541.6:p.Ser2194Phe
NM_017617.3:c.6581C>T	NP_060087.3:p.Ser2194Phe
XM_011518717.1:c.5882C>T	XP_011517019.1:p.Ser1961Phe
NM_017617.5:c.6581C>T MANE Select	NP_060087.3:p.Ser2194Phe
XM_011518717.2:c.5858C>T	XP_011517019.2:p.Ser1953Phe