Canonical Allele Identifier: CA375644506

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336224
• MyVariant Identifiers: chr9:g.139399255G>C (hg19) ; chr9:g.136504803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504803G>C , CM000671.2:g.136504803G>C	GRCh38
NC_000009.11:g.139399255G>C , CM000671.1:g.139399255G>C	GRCh37
NC_000009.10:g.138519076G>C	NCBI36
NG_007458.1:g.45984C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2695C>G
ENST00000651671.1:c.4888C>G MANE Select	ENSP00000498587.1:p.Pro1630Ala
ENST00000679595.1:c.4888C>G	ENSP00000506241.1:p.Pro1630Ala
ENST00000680133.1:c.4774C>G	ENSP00000505319.1:p.Pro1592Ala
ENST00000680218.1:c.4768C>G	ENSP00000505339.1:p.Pro1590Ala
ENST00000680668.1:c.4774C>G	ENSP00000506336.1:p.Pro1592Ala
ENST00000680778.1:c.2485C>G	ENSP00000506033.1:p.Pro829Ala
ENST00000680924.1:c.*2288C>G	ENSP00000506031.1:n.*2288C>G
ENST00000681135.1:c.*2497C>G	ENSP00000506636.1:n.*2497C>G
ENST00000681298.1:n.1701C>G
ENST00000681454.1:c.*4124C>G	ENSP00000505763.1:n.*4124C>G
ENST00000277541.6:c.4888C>G	ENSP00000277541.6:p.Pro1630Ala
ENST00000494783.1:n.43C>G
NM_017617.3:c.4888C>G	NP_060087.3:p.Pro1630Ala
XM_011518717.1:c.4189C>G	XP_011517019.1:p.Pro1397Ala
NM_017617.5:c.4888C>G MANE Select	NP_060087.3:p.Pro1630Ala
XM_011518717.2:c.4165C>G	XP_011517019.2:p.Pro1389Ala