Canonical Allele Identifier: CA375644140

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504710-G-C
• MyVariant Identifiers: chr9:g.139399162G>C (hg19) ; chr9:g.136504710G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504710G>C , CM000671.2:g.136504710G>C	GRCh38
NC_000009.11:g.139399162G>C , CM000671.1:g.139399162G>C	GRCh37
NC_000009.10:g.138518983G>C	NCBI36
NG_007458.1:g.46077C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2788C>G
ENST00000651671.1:c.4981C>G MANE Select	ENSP00000498587.1:p.Arg1661Gly
ENST00000679595.1:c.4981C>G	ENSP00000506241.1:p.Arg1661Gly
ENST00000680133.1:c.4867C>G	ENSP00000505319.1:p.Arg1623Gly
ENST00000680218.1:c.4861C>G	ENSP00000505339.1:p.Arg1621Gly
ENST00000680668.1:c.4867C>G	ENSP00000506336.1:p.Arg1623Gly
ENST00000680778.1:c.2578C>G	ENSP00000506033.1:p.Arg860Gly
ENST00000680924.1:c.*2381C>G	ENSP00000506031.1:n.*2381C>G
ENST00000681135.1:c.*2590C>G	ENSP00000506636.1:n.*2590C>G
ENST00000681298.1:n.1794C>G
ENST00000681454.1:c.*4217C>G	ENSP00000505763.1:n.*4217C>G
ENST00000277541.6:c.4981C>G	ENSP00000277541.6:p.Arg1661Gly
ENST00000494783.1:n.136C>G
NM_017617.3:c.4981C>G	NP_060087.3:p.Arg1661Gly
XM_011518717.1:c.4282C>G	XP_011517019.1:p.Arg1428Gly
NM_017617.5:c.4981C>G MANE Select	NP_060087.3:p.Arg1661Gly
XM_011518717.2:c.4258C>G	XP_011517019.2:p.Arg1420Gly