Canonical Allele Identifier: CA375644540

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399261T>A (hg19) ; chr9:g.136504809T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504809T>A , CM000671.2:g.136504809T>A	GRCh38
NC_000009.11:g.139399261T>A , CM000671.1:g.139399261T>A	GRCh37
NC_000009.10:g.138519082T>A	NCBI36
NG_007458.1:g.45978A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2689A>T
ENST00000651671.1:c.4882A>T MANE Select	ENSP00000498587.1:p.Lys1628Ter
ENST00000679595.1:c.4882A>T	ENSP00000506241.1:p.Lys1628Ter
ENST00000680133.1:c.4768A>T	ENSP00000505319.1:p.Lys1590Ter
ENST00000680218.1:c.4762A>T	ENSP00000505339.1:p.Lys1588Ter
ENST00000680668.1:c.4768A>T	ENSP00000506336.1:p.Lys1590Ter
ENST00000680778.1:c.2479A>T	ENSP00000506033.1:p.Lys827Ter
ENST00000680924.1:c.*2282A>T	ENSP00000506031.1:n.*2282A>T
ENST00000681135.1:c.*2491A>T	ENSP00000506636.1:n.*2491A>T
ENST00000681298.1:n.1695A>T
ENST00000681454.1:c.*4118A>T	ENSP00000505763.1:n.*4118A>T
ENST00000277541.6:c.4882A>T	ENSP00000277541.6:p.Lys1628Ter
ENST00000494783.1:n.37A>T
NM_017617.3:c.4882A>T	NP_060087.3:p.Lys1628Ter
XM_011518717.1:c.4183A>T	XP_011517019.1:p.Lys1395Ter
NM_017617.5:c.4882A>T MANE Select	NP_060087.3:p.Lys1628Ter
XM_011518717.2:c.4159A>T	XP_011517019.2:p.Lys1387Ter