Canonical Allele Identifier: CA201587607

Gene: NOTCH1

Linked Data

• dbSNP Id: rs757631575
• gnomAD v2: 9-139412594-G-C
• gnomAD v4: 9-136518142-G-C
• MyVariant Identifiers: chr9:g.139412594G>C (hg19) ; chr9:g.136518142G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518142G>C , CM000671.2:g.136518142G>C	GRCh38
NC_000009.11:g.139412594G>C , CM000671.1:g.139412594G>C	GRCh37
NC_000009.10:g.138532415G>C	NCBI36
NG_007458.1:g.32645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1250C>G MANE Select	ENSP00000498587.1:p.Ser417Trp
ENST00000679595.1:c.1250C>G	ENSP00000506241.1:p.Ser417Trp
ENST00000680133.1:c.1250C>G	ENSP00000505319.1:p.Ser417Trp
ENST00000680218.1:c.1250C>G	ENSP00000505339.1:p.Ser417Trp
ENST00000680668.1:c.1250C>G	ENSP00000506336.1:p.Ser417Trp
ENST00000680924.1:c.1250C>G	ENSP00000506031.1:p.Ser417Trp
ENST00000681135.1:c.1250C>G	ENSP00000506636.1:p.Ser417Trp
ENST00000681454.1:c.*486C>G	ENSP00000505763.1:n.*486C>G
ENST00000277541.6:c.1250C>G	ENSP00000277541.6:p.Ser417Trp
NM_017617.3:c.1250C>G	NP_060087.3:p.Ser417Trp
XM_011518717.1:c.551C>G	XP_011517019.1:p.Ser184Trp
NM_017617.5:c.1250C>G MANE Select	NP_060087.3:p.Ser417Trp
XM_011518717.2:c.527C>G	XP_011517019.2:p.Ser176Trp