Canonical Allele Identifier: CA375626504

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1472062
• ClinVar RCV Id: RCV001975812
• dbSNP Id: rs2133315021
• gnomAD v4: 9-136496337-G-T
• MyVariant Identifiers: chr9:g.139390789G>T (hg19) ; chr9:g.136496337G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136496337G>T , CM000671.2:g.136496337G>T	GRCh38
NC_000009.11:g.139390789G>T , CM000671.1:g.139390789G>T	GRCh37
NC_000009.10:g.138510610G>T	NCBI36
NG_007458.1:g.54450C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.7402C>A MANE Select	ENSP00000498587.1:p.Leu2468Met
ENST00000679595.1:c.*2442C>A	ENSP00000506241.1:n.*2442C>A
ENST00000679969.1:n.3998C>A
ENST00000680003.1:n.3734C>A
ENST00000680133.1:c.7288C>A	ENSP00000505319.1:p.Leu2430Met
ENST00000680218.1:c.7282C>A	ENSP00000505339.1:p.Leu2428Met
ENST00000680668.1:c.7288C>A	ENSP00000506336.1:p.Leu2430Met
ENST00000680778.1:c.4999C>A	ENSP00000506033.1:p.Leu1667Met
ENST00000680924.1:c.*4802C>A	ENSP00000506031.1:n.*4802C>A
ENST00000681135.1:c.*5011C>A	ENSP00000506636.1:n.*5011C>A
ENST00000681298.1:n.5507C>A
ENST00000681454.1:c.*6638C>A	ENSP00000505763.1:n.*6638C>A
ENST00000277541.6:c.7402C>A	ENSP00000277541.6:p.Leu2468Met
NM_017617.3:c.7402C>A	NP_060087.3:p.Leu2468Met
XM_011518717.1:c.6703C>A	XP_011517019.1:p.Leu2235Met
NM_017617.5:c.7402C>A MANE Select	NP_060087.3:p.Leu2468Met
XM_011518717.2:c.6679C>A	XP_011517019.2:p.Leu2227Met