Canonical Allele Identifier: CA467738227

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 508330
• ClinVar RCV Id: RCV000603590
• dbSNP Id: rs749488166
• gnomAD v4: 9-136498968-G-C
• MyVariant Identifiers: chr9:g.139393420G>C (hg19) ; chr9:g.136498968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498968G>C , CM000671.2:g.136498968G>C	GRCh38
NC_000009.11:g.139393420G>C , CM000671.1:g.139393420G>C	GRCh37
NC_000009.10:g.138513241G>C	NCBI36
NG_007458.1:g.51819C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6111C>G MANE Select	ENSP00000498587.1:p.Ala2037=
ENST00000679595.1:c.*1151C>G	ENSP00000506241.1:n.*1151C>G
ENST00000679969.1:n.2707C>G
ENST00000680003.1:n.2443C>G
ENST00000680133.1:c.5997C>G	ENSP00000505319.1:p.Ala1999=
ENST00000680218.1:c.5991C>G	ENSP00000505339.1:p.Ala1997=
ENST00000680668.1:c.5997C>G	ENSP00000506336.1:p.Ala1999=
ENST00000680778.1:c.3708C>G	ENSP00000506033.1:p.Ala1236=
ENST00000680924.1:c.*3511C>G	ENSP00000506031.1:n.*3511C>G
ENST00000681135.1:c.*3720C>G	ENSP00000506636.1:n.*3720C>G
ENST00000681298.1:n.4216C>G
ENST00000681454.1:c.*5347C>G	ENSP00000505763.1:n.*5347C>G
ENST00000277541.6:c.6111C>G	ENSP00000277541.6:p.Ala2037=
NM_017617.3:c.6111C>G	NP_060087.3:p.Ala2037=
XM_011518717.1:c.5412C>G	XP_011517019.1:p.Ala1804=
NM_017617.5:c.6111C>G MANE Select	NP_060087.3:p.Ala2037=
XM_011518717.2:c.5388C>G	XP_011517019.2:p.Ala1796=