Canonical Allele Identifier: CA375646115

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136505104-G-C
• MyVariant Identifiers: chr9:g.139399556G>C (hg19) ; chr9:g.136505104G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505104G>C , CM000671.2:g.136505104G>C	GRCh38
NC_000009.11:g.139399556G>C , CM000671.1:g.139399556G>C	GRCh37
NC_000009.10:g.138519377G>C	NCBI36
NG_007458.1:g.45683C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2394C>G
ENST00000651671.1:c.4587C>G MANE Select	ENSP00000498587.1:p.Asn1529Lys
ENST00000679595.1:c.4587C>G	ENSP00000506241.1:p.Asn1529Lys
ENST00000680133.1:c.4473C>G	ENSP00000505319.1:p.Asn1491Lys
ENST00000680218.1:c.4467C>G	ENSP00000505339.1:p.Asn1489Lys
ENST00000680668.1:c.4473C>G	ENSP00000506336.1:p.Asn1491Lys
ENST00000680778.1:c.2184C>G	ENSP00000506033.1:p.Asn728Lys
ENST00000680924.1:c.*1987C>G	ENSP00000506031.1:n.*1987C>G
ENST00000681135.1:c.*2196C>G	ENSP00000506636.1:n.*2196C>G
ENST00000681298.1:n.1400C>G
ENST00000681454.1:c.*3823C>G	ENSP00000505763.1:n.*3823C>G
ENST00000277541.6:c.4587C>G	ENSP00000277541.6:p.Asn1529Lys
NM_017617.3:c.4587C>G	NP_060087.3:p.Asn1529Lys
XM_011518717.1:c.3888C>G	XP_011517019.1:p.Asn1296Lys
NM_017617.5:c.4587C>G MANE Select	NP_060087.3:p.Asn1529Lys
XM_011518717.2:c.3864C>G	XP_011517019.2:p.Asn1288Lys