Canonical Allele Identifier: CA375644092

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335745
• gnomAD v4: 9-136504699-C-A
• MyVariant Identifiers: chr9:g.139399151C>A (hg19) ; chr9:g.136504699C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504699C>A , CM000671.2:g.136504699C>A	GRCh38
NC_000009.11:g.139399151C>A , CM000671.1:g.139399151C>A	GRCh37
NC_000009.10:g.138518972C>A	NCBI36
NG_007458.1:g.46088G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2799G>T
ENST00000651671.1:c.4992G>T MANE Select	ENSP00000498587.1:p.Arg1664Ser
ENST00000679595.1:c.4992G>T	ENSP00000506241.1:p.Arg1664Ser
ENST00000680133.1:c.4878G>T	ENSP00000505319.1:p.Arg1626Ser
ENST00000680218.1:c.4872G>T	ENSP00000505339.1:p.Arg1624Ser
ENST00000680668.1:c.4878G>T	ENSP00000506336.1:p.Arg1626Ser
ENST00000680778.1:c.2589G>T	ENSP00000506033.1:p.Arg863Ser
ENST00000680924.1:c.*2392G>T	ENSP00000506031.1:n.*2392G>T
ENST00000681135.1:c.*2601G>T	ENSP00000506636.1:n.*2601G>T
ENST00000681298.1:n.1805G>T
ENST00000681454.1:c.*4228G>T	ENSP00000505763.1:n.*4228G>T
ENST00000277541.6:c.4992G>T	ENSP00000277541.6:p.Arg1664Ser
ENST00000494783.1:n.147G>T
NM_017617.3:c.4992G>T	NP_060087.3:p.Arg1664Ser
XM_011518717.1:c.4293G>T	XP_011517019.1:p.Arg1431Ser
NM_017617.5:c.4992G>T MANE Select	NP_060087.3:p.Arg1664Ser
XM_011518717.2:c.4269G>T	XP_011517019.2:p.Arg1423Ser