Canonical Allele Identifier: CA375644418

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1344639057
• gnomAD v4: 9-136504782-C-T
• MyVariant Identifiers: chr9:g.139399234C>T (hg19) ; chr9:g.136504782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504782C>T , CM000671.2:g.136504782C>T	GRCh38
NC_000009.11:g.139399234C>T , CM000671.1:g.139399234C>T	GRCh37
NC_000009.10:g.138519055C>T	NCBI36
NG_007458.1:g.46005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2716G>A
ENST00000651671.1:c.4909G>A MANE Select	ENSP00000498587.1:p.Gly1637Ser
ENST00000679595.1:c.4909G>A	ENSP00000506241.1:p.Gly1637Ser
ENST00000680133.1:c.4795G>A	ENSP00000505319.1:p.Gly1599Ser
ENST00000680218.1:c.4789G>A	ENSP00000505339.1:p.Gly1597Ser
ENST00000680668.1:c.4795G>A	ENSP00000506336.1:p.Gly1599Ser
ENST00000680778.1:c.2506G>A	ENSP00000506033.1:p.Gly836Ser
ENST00000680924.1:c.*2309G>A	ENSP00000506031.1:n.*2309G>A
ENST00000681135.1:c.*2518G>A	ENSP00000506636.1:n.*2518G>A
ENST00000681298.1:n.1722G>A
ENST00000681454.1:c.*4145G>A	ENSP00000505763.1:n.*4145G>A
ENST00000277541.6:c.4909G>A	ENSP00000277541.6:p.Gly1637Ser
ENST00000494783.1:n.64G>A
NM_017617.3:c.4909G>A	NP_060087.3:p.Gly1637Ser
XM_011518717.1:c.4210G>A	XP_011517019.1:p.Gly1404Ser
NM_017617.5:c.4909G>A MANE Select	NP_060087.3:p.Gly1637Ser
XM_011518717.2:c.4186G>A	XP_011517019.2:p.Gly1396Ser