Canonical Allele Identifier: CA375564458

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139412617G>C (hg19) ; chr9:g.136518165G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518165G>C , CM000671.2:g.136518165G>C	GRCh38
NC_000009.11:g.139412617G>C , CM000671.1:g.139412617G>C	GRCh37
NC_000009.10:g.138532438G>C	NCBI36
NG_007458.1:g.32622C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1227C>G MANE Select	ENSP00000498587.1:p.Cys409Trp
ENST00000679595.1:c.1227C>G	ENSP00000506241.1:p.Cys409Trp
ENST00000680133.1:c.1227C>G	ENSP00000505319.1:p.Cys409Trp
ENST00000680218.1:c.1227C>G	ENSP00000505339.1:p.Cys409Trp
ENST00000680668.1:c.1227C>G	ENSP00000506336.1:p.Cys409Trp
ENST00000680924.1:c.1227C>G	ENSP00000506031.1:p.Cys409Trp
ENST00000681135.1:c.1227C>G	ENSP00000506636.1:p.Cys409Trp
ENST00000681454.1:c.*463C>G	ENSP00000505763.1:n.*463C>G
ENST00000277541.6:c.1227C>G	ENSP00000277541.6:p.Cys409Trp
NM_017617.3:c.1227C>G	NP_060087.3:p.Cys409Trp
XM_011518717.1:c.528C>G	XP_011517019.1:p.Cys176Trp
NM_017617.5:c.1227C>G MANE Select	NP_060087.3:p.Cys409Trp
XM_011518717.2:c.504C>G	XP_011517019.2:p.Cys168Trp