Canonical Allele Identifier: CA375645760

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399493G>C (hg19) ; chr9:g.136505041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505041G>C , CM000671.2:g.136505041G>C	GRCh38
NC_000009.11:g.139399493G>C , CM000671.1:g.139399493G>C	GRCh37
NC_000009.10:g.138519314G>C	NCBI36
NG_007458.1:g.45746C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2457C>G
ENST00000651671.1:c.4650C>G MANE Select	ENSP00000498587.1:p.Asn1550Lys
ENST00000679595.1:c.4650C>G	ENSP00000506241.1:p.Asn1550Lys
ENST00000680133.1:c.4536C>G	ENSP00000505319.1:p.Asn1512Lys
ENST00000680218.1:c.4530C>G	ENSP00000505339.1:p.Asn1510Lys
ENST00000680668.1:c.4536C>G	ENSP00000506336.1:p.Asn1512Lys
ENST00000680778.1:c.2247C>G	ENSP00000506033.1:p.Asn749Lys
ENST00000680924.1:c.*2050C>G	ENSP00000506031.1:n.*2050C>G
ENST00000681135.1:c.*2259C>G	ENSP00000506636.1:n.*2259C>G
ENST00000681298.1:n.1463C>G
ENST00000681454.1:c.*3886C>G	ENSP00000505763.1:n.*3886C>G
ENST00000277541.6:c.4650C>G	ENSP00000277541.6:p.Asn1550Lys
NM_017617.3:c.4650C>G	NP_060087.3:p.Asn1550Lys
XM_011518717.1:c.3951C>G	XP_011517019.1:p.Asn1317Lys
NM_017617.5:c.4650C>G MANE Select	NP_060087.3:p.Asn1550Lys
XM_011518717.2:c.3927C>G	XP_011517019.2:p.Asn1309Lys