Canonical Allele Identifier: CA375564339

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139412596G>C (hg19) ; chr9:g.136518144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518144G>C , CM000671.2:g.136518144G>C	GRCh38
NC_000009.11:g.139412596G>C , CM000671.1:g.139412596G>C	GRCh37
NC_000009.10:g.138532417G>C	NCBI36
NG_007458.1:g.32643C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1248C>G MANE Select	ENSP00000498587.1:p.Cys416Trp
ENST00000679595.1:c.1248C>G	ENSP00000506241.1:p.Cys416Trp
ENST00000680133.1:c.1248C>G	ENSP00000505319.1:p.Cys416Trp
ENST00000680218.1:c.1248C>G	ENSP00000505339.1:p.Cys416Trp
ENST00000680668.1:c.1248C>G	ENSP00000506336.1:p.Cys416Trp
ENST00000680924.1:c.1248C>G	ENSP00000506031.1:p.Cys416Trp
ENST00000681135.1:c.1248C>G	ENSP00000506636.1:p.Cys416Trp
ENST00000681454.1:c.*484C>G	ENSP00000505763.1:n.*484C>G
ENST00000277541.6:c.1248C>G	ENSP00000277541.6:p.Cys416Trp
NM_017617.3:c.1248C>G	NP_060087.3:p.Cys416Trp
XM_011518717.1:c.549C>G	XP_011517019.1:p.Cys183Trp
NM_017617.5:c.1248C>G MANE Select	NP_060087.3:p.Cys416Trp
XM_011518717.2:c.525C>G	XP_011517019.2:p.Cys175Trp