Canonical Allele Identifier: CA375644086

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399150C>A (hg19) ; chr9:g.136504698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504698C>A , CM000671.2:g.136504698C>A	GRCh38
NC_000009.11:g.139399150C>A , CM000671.1:g.139399150C>A	GRCh37
NC_000009.10:g.138518971C>A	NCBI36
NG_007458.1:g.46089G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2800G>T
ENST00000651671.1:c.4993G>T MANE Select	ENSP00000498587.1:p.Glu1665Ter
ENST00000679595.1:c.4993G>T	ENSP00000506241.1:p.Glu1665Ter
ENST00000680133.1:c.4879G>T	ENSP00000505319.1:p.Glu1627Ter
ENST00000680218.1:c.4873G>T	ENSP00000505339.1:p.Glu1625Ter
ENST00000680668.1:c.4879G>T	ENSP00000506336.1:p.Glu1627Ter
ENST00000680778.1:c.2590G>T	ENSP00000506033.1:p.Glu864Ter
ENST00000680924.1:c.*2393G>T	ENSP00000506031.1:n.*2393G>T
ENST00000681135.1:c.*2602G>T	ENSP00000506636.1:n.*2602G>T
ENST00000681298.1:n.1806G>T
ENST00000681454.1:c.*4229G>T	ENSP00000505763.1:n.*4229G>T
ENST00000277541.6:c.4993G>T	ENSP00000277541.6:p.Glu1665Ter
ENST00000494783.1:n.148G>T
NM_017617.3:c.4993G>T	NP_060087.3:p.Glu1665Ter
XM_011518717.1:c.4294G>T	XP_011517019.1:p.Glu1432Ter
NM_017617.5:c.4993G>T MANE Select	NP_060087.3:p.Glu1665Ter
XM_011518717.2:c.4270G>T	XP_011517019.2:p.Glu1424Ter