Canonical Allele Identifier: CA375644357

Gene: NOTCH1

Linked Data

• dbSNP Id: rs961688338
• COSMIC: COSM5880083
• MyVariant Identifiers: chr9:g.139399221G>A (hg19) ; chr9:g.136504769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504769G>A , CM000671.2:g.136504769G>A	GRCh38
NC_000009.11:g.139399221G>A , CM000671.1:g.139399221G>A	GRCh37
NC_000009.10:g.138519042G>A	NCBI36
NG_007458.1:g.46018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2729C>T
ENST00000651671.1:c.4922C>T MANE Select	ENSP00000498587.1:p.Pro1641Leu
ENST00000679595.1:c.4922C>T	ENSP00000506241.1:p.Pro1641Leu
ENST00000680133.1:c.4808C>T	ENSP00000505319.1:p.Pro1603Leu
ENST00000680218.1:c.4802C>T	ENSP00000505339.1:p.Pro1601Leu
ENST00000680668.1:c.4808C>T	ENSP00000506336.1:p.Pro1603Leu
ENST00000680778.1:c.2519C>T	ENSP00000506033.1:p.Pro840Leu
ENST00000680924.1:c.*2322C>T	ENSP00000506031.1:n.*2322C>T
ENST00000681135.1:c.*2531C>T	ENSP00000506636.1:n.*2531C>T
ENST00000681298.1:n.1735C>T
ENST00000681454.1:c.*4158C>T	ENSP00000505763.1:n.*4158C>T
ENST00000277541.6:c.4922C>T	ENSP00000277541.6:p.Pro1641Leu
ENST00000494783.1:n.77C>T
NM_017617.3:c.4922C>T	NP_060087.3:p.Pro1641Leu
XM_011518717.1:c.4223C>T	XP_011517019.1:p.Pro1408Leu
NM_017617.5:c.4922C>T MANE Select	NP_060087.3:p.Pro1641Leu
XM_011518717.2:c.4199C>T	XP_011517019.2:p.Pro1400Leu