Canonical Allele Identifier: CA375644024

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399141G>C (hg19) ; chr9:g.136504689G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504689G>C , CM000671.2:g.136504689G>C	GRCh38
NC_000009.11:g.139399141G>C , CM000671.1:g.139399141G>C	GRCh37
NC_000009.10:g.138518962G>C	NCBI36
NG_007458.1:g.46098C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2809C>G
ENST00000651671.1:c.5002C>G MANE Select	ENSP00000498587.1:p.Pro1668Ala
ENST00000679595.1:c.5002C>G	ENSP00000506241.1:p.Pro1668Ala
ENST00000680133.1:c.4888C>G	ENSP00000505319.1:p.Pro1630Ala
ENST00000680218.1:c.4882C>G	ENSP00000505339.1:p.Pro1628Ala
ENST00000680668.1:c.4888C>G	ENSP00000506336.1:p.Pro1630Ala
ENST00000680778.1:c.2599C>G	ENSP00000506033.1:p.Pro867Ala
ENST00000680924.1:c.*2402C>G	ENSP00000506031.1:n.*2402C>G
ENST00000681135.1:c.*2611C>G	ENSP00000506636.1:n.*2611C>G
ENST00000681298.1:n.1815C>G
ENST00000681454.1:c.*4238C>G	ENSP00000505763.1:n.*4238C>G
ENST00000277541.6:c.5002C>G	ENSP00000277541.6:p.Pro1668Ala
ENST00000494783.1:n.157C>G
NM_017617.3:c.5002C>G	NP_060087.3:p.Pro1668Ala
XM_011518717.1:c.4303C>G	XP_011517019.1:p.Pro1435Ala
NM_017617.5:c.5002C>G MANE Select	NP_060087.3:p.Pro1668Ala
XM_011518717.2:c.4279C>G	XP_011517019.2:p.Pro1427Ala