Canonical Allele Identifier: CA467832916

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337170
• gnomAD v4: 9-136504963-C-A
• MyVariant Identifiers: chr9:g.139399415C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504963C>A , CM000671.2:g.136504963C>A	GRCh38
NC_000009.11:g.139399415C>A , CM000671.1:g.139399415C>A	GRCh37
NC_000009.10:g.138519236C>A	NCBI36
NG_007458.1:g.45824G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2535G>T
ENST00000651671.1:c.4728G>T MANE Select	ENSP00000498587.1:p.Val1576=
ENST00000679595.1:c.4728G>T	ENSP00000506241.1:p.Val1576=
ENST00000680133.1:c.4614G>T	ENSP00000505319.1:p.Val1538=
ENST00000680218.1:c.4608G>T	ENSP00000505339.1:p.Val1536=
ENST00000680668.1:c.4614G>T	ENSP00000506336.1:p.Val1538=
ENST00000680778.1:c.2325G>T	ENSP00000506033.1:p.Val775=
ENST00000680924.1:c.*2128G>T	ENSP00000506031.1:n.*2128G>T
ENST00000681135.1:c.*2337G>T	ENSP00000506636.1:n.*2337G>T
ENST00000681298.1:n.1541G>T
ENST00000681454.1:c.*3964G>T	ENSP00000505763.1:n.*3964G>T
ENST00000277541.6:c.4728G>T	ENSP00000277541.6:p.Val1576=
NM_017617.3:c.4728G>T	NP_060087.3:p.Val1576=
XM_011518717.1:c.4029G>T	XP_011517019.1:p.Val1343=
NM_017617.5:c.4728G>T MANE Select	NP_060087.3:p.Val1576=
XM_011518717.2:c.4005G>T	XP_011517019.2:p.Val1335=