Canonical Allele Identifier: CA467832378

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1448272143
• gnomAD v2: 9-139391672-G-A
• gnomAD v4: 9-136497220-G-A
• MyVariant Identifiers: chr9:g.139391672G>A (hg19) ; chr9:g.136497220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497220G>A , CM000671.2:g.136497220G>A	GRCh38
NC_000009.11:g.139391672G>A , CM000671.1:g.139391672G>A	GRCh37
NC_000009.10:g.138511493G>A	NCBI36
NG_007458.1:g.53567C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6519C>T MANE Select	ENSP00000498587.1:p.Ala2173=
ENST00000679595.1:c.*1559C>T	ENSP00000506241.1:n.*1559C>T
ENST00000679969.1:n.3115C>T
ENST00000680003.1:n.2851C>T
ENST00000680133.1:c.6405C>T	ENSP00000505319.1:p.Ala2135=
ENST00000680218.1:c.6399C>T	ENSP00000505339.1:p.Ala2133=
ENST00000680668.1:c.6405C>T	ENSP00000506336.1:p.Ala2135=
ENST00000680778.1:c.4116C>T	ENSP00000506033.1:p.Ala1372=
ENST00000680924.1:c.*3919C>T	ENSP00000506031.1:n.*3919C>T
ENST00000681135.1:c.*4128C>T	ENSP00000506636.1:n.*4128C>T
ENST00000681298.1:n.4624C>T
ENST00000681454.1:c.*5755C>T	ENSP00000505763.1:n.*5755C>T
ENST00000277541.6:c.6519C>T	ENSP00000277541.6:p.Ala2173=
NM_017617.3:c.6519C>T	NP_060087.3:p.Ala2173=
XM_011518717.1:c.5820C>T	XP_011517019.1:p.Ala1940=
NM_017617.5:c.6519C>T MANE Select	NP_060087.3:p.Ala2173=
XM_011518717.2:c.5796C>T	XP_011517019.2:p.Ala1932=