Canonical Allele Identifier: CA375631555

Gene: NOTCH1

Linked Data

• dbSNP Id: rs201518848
• MyVariant Identifiers: chr9:g.139391710G>C (hg19) ; chr9:g.136497258G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497258G>C , CM000671.2:g.136497258G>C	GRCh38
NC_000009.11:g.139391710G>C , CM000671.1:g.139391710G>C	GRCh37
NC_000009.10:g.138511531G>C	NCBI36
NG_007458.1:g.53529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6481C>G MANE Select	ENSP00000498587.1:p.Pro2161Ala
ENST00000679595.1:c.*1521C>G	ENSP00000506241.1:n.*1521C>G
ENST00000679969.1:n.3077C>G
ENST00000680003.1:n.2813C>G
ENST00000680133.1:c.6367C>G	ENSP00000505319.1:p.Pro2123Ala
ENST00000680218.1:c.6361C>G	ENSP00000505339.1:p.Pro2121Ala
ENST00000680668.1:c.6367C>G	ENSP00000506336.1:p.Pro2123Ala
ENST00000680778.1:c.4078C>G	ENSP00000506033.1:p.Pro1360Ala
ENST00000680924.1:c.*3881C>G	ENSP00000506031.1:n.*3881C>G
ENST00000681135.1:c.*4090C>G	ENSP00000506636.1:n.*4090C>G
ENST00000681298.1:n.4586C>G
ENST00000681454.1:c.*5717C>G	ENSP00000505763.1:n.*5717C>G
ENST00000277541.6:c.6481C>G	ENSP00000277541.6:p.Pro2161Ala
NM_017617.3:c.6481C>G	NP_060087.3:p.Pro2161Ala
XM_011518717.1:c.5782C>G	XP_011517019.1:p.Pro1928Ala
NM_017617.5:c.6481C>G MANE Select	NP_060087.3:p.Pro2161Ala
XM_011518717.2:c.5758C>G	XP_011517019.2:p.Pro1920Ala