Canonical Allele Identifier: CA5340552

Gene: NOTCH1

Linked Data

• dbSNP Id: rs375652707
• ExAC: 9:139399520 G / A
• gnomAD v2: 9-139399520-G-A
• gnomAD v4: 9-136505068-G-A
• MyVariant Identifiers: chr9:g.139399520G>A (hg19) ; chr9:g.136505068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505068G>A , CM000671.2:g.136505068G>A	GRCh38
NC_000009.11:g.139399520G>A , CM000671.1:g.139399520G>A	GRCh37
NC_000009.10:g.138519341G>A	NCBI36
NG_007458.1:g.45719C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2430C>T
ENST00000651671.1:c.4623C>T MANE Select	ENSP00000498587.1:p.Ser1541=
ENST00000679595.1:c.4623C>T	ENSP00000506241.1:p.Ser1541=
ENST00000680133.1:c.4509C>T	ENSP00000505319.1:p.Ser1503=
ENST00000680218.1:c.4503C>T	ENSP00000505339.1:p.Ser1501=
ENST00000680668.1:c.4509C>T	ENSP00000506336.1:p.Ser1503=
ENST00000680778.1:c.2220C>T	ENSP00000506033.1:p.Ser740=
ENST00000680924.1:c.*2023C>T	ENSP00000506031.1:n.*2023C>T
ENST00000681135.1:c.*2232C>T	ENSP00000506636.1:n.*2232C>T
ENST00000681298.1:n.1436C>T
ENST00000681454.1:c.*3859C>T	ENSP00000505763.1:n.*3859C>T
ENST00000277541.6:c.4623C>T	ENSP00000277541.6:p.Ser1541=
NM_017617.3:c.4623C>T	NP_060087.3:p.Ser1541=
XM_011518717.1:c.3924C>T	XP_011517019.1:p.Ser1308=
NM_017617.5:c.4623C>T MANE Select	NP_060087.3:p.Ser1541=
XM_011518717.2:c.3900C>T	XP_011517019.2:p.Ser1300=