Canonical Allele Identifier: CA375643922

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504677-G-T
• MyVariant Identifiers: chr9:g.139399129G>T (hg19) ; chr9:g.136504677G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504677G>T , CM000671.2:g.136504677G>T	GRCh38
NC_000009.11:g.139399129G>T , CM000671.1:g.139399129G>T	GRCh37
NC_000009.10:g.138518950G>T	NCBI36
NG_007458.1:g.46110C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.2821C>A
ENST00000651671.1:c.5014C>A MANE Select	ENSP00000498587.1:p.Arg1672Ser
ENST00000679595.1:c.5014C>A	ENSP00000506241.1:p.Arg1672Ser
ENST00000680133.1:c.4900C>A	ENSP00000505319.1:p.Arg1634Ser
ENST00000680218.1:c.4894C>A	ENSP00000505339.1:p.Arg1632Ser
ENST00000680668.1:c.4900C>A	ENSP00000506336.1:p.Arg1634Ser
ENST00000680778.1:c.2611C>A	ENSP00000506033.1:p.Arg871Ser
ENST00000680924.1:c.*2414C>A	ENSP00000506031.1:n.*2414C>A
ENST00000681135.1:c.*2623C>A	ENSP00000506636.1:n.*2623C>A
ENST00000681298.1:n.1827C>A
ENST00000681454.1:c.*4250C>A	ENSP00000505763.1:n.*4250C>A
ENST00000277541.6:c.5014C>A	ENSP00000277541.6:p.Arg1672Ser
ENST00000494783.1:n.169C>A
NM_017617.3:c.5014C>A	NP_060087.3:p.Arg1672Ser
XM_011518717.1:c.4315C>A	XP_011517019.1:p.Arg1439Ser
NM_017617.5:c.5014C>A MANE Select	NP_060087.3:p.Arg1672Ser
XM_011518717.2:c.4291C>A	XP_011517019.2:p.Arg1431Ser