Canonical Allele Identifier: CA5340600

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505359C>T , CM000671.2:g.136505359C>T	GRCh38
NC_000009.11:g.139399811C>T , CM000671.1:g.139399811C>T	GRCh37
NC_000009.10:g.138519632C>T	NCBI36
NG_007458.1:g.45428G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.4537G>A MANE Select	NP_060087.3:p.Gly1513Ser
ENST00000651671.1:c.4537G>A MANE Select	ENSP00000498587.1:p.Gly1513Ser
NM_017617.3:c.4537G>A	NP_060087.3:p.Gly1513Ser
ENST00000277541.6:c.4537G>A	ENSP00000277541.6:p.Gly1513Ser
ENST00000645828.1:n.2344G>A
ENST00000679595.1:c.4537G>A	ENSP00000506241.1:p.Gly1513Ser
ENST00000680133.1:c.4423G>A	ENSP00000505319.1:p.Gly1475Ser
ENST00000680218.1:c.4417G>A	ENSP00000505339.1:p.Gly1473Ser
ENST00000680668.1:c.4423G>A	ENSP00000506336.1:p.Gly1475Ser
ENST00000680778.1:c.2134G>A	ENSP00000506033.1:p.Gly712Ser
ENST00000680924.1:c.*1937G>A	ENSP00000506031.1:n.*1937G>A
ENST00000681135.1:c.*2146G>A	ENSP00000506636.1:n.*2146G>A
ENST00000681298.1:n.1350G>A
ENST00000681454.1:c.*3773G>A	ENSP00000505763.1:n.*3773G>A
XM_011518717.1:c.3838G>A	XP_011517019.1:p.Gly1280Ser
XM_011518717.2:c.3814G>A	XP_011517019.2:p.Gly1272Ser