Canonical Allele Identifier: CA375644637

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1951006
• ClinVar RCV Id: RCV002681659
• dbSNP Id: rs867637156
• gnomAD v2: 9-139399282-C-T
• gnomAD v4: 9-136504830-C-T
• MyVariant Identifiers: chr9:g.139399282C>T (hg19) ; chr9:g.136504830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504830C>T , CM000671.2:g.136504830C>T	GRCh38
NC_000009.11:g.139399282C>T , CM000671.1:g.139399282C>T	GRCh37
NC_000009.10:g.138519103C>T	NCBI36
NG_007458.1:g.45957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2668G>A
ENST00000651671.1:c.4861G>A MANE Select	ENSP00000498587.1:p.Gly1621Ser
ENST00000679595.1:c.4861G>A	ENSP00000506241.1:p.Gly1621Ser
ENST00000680133.1:c.4747G>A	ENSP00000505319.1:p.Gly1583Ser
ENST00000680218.1:c.4741G>A	ENSP00000505339.1:p.Gly1581Ser
ENST00000680668.1:c.4747G>A	ENSP00000506336.1:p.Gly1583Ser
ENST00000680778.1:c.2458G>A	ENSP00000506033.1:p.Gly820Ser
ENST00000680924.1:c.*2261G>A	ENSP00000506031.1:n.*2261G>A
ENST00000681135.1:c.*2470G>A	ENSP00000506636.1:n.*2470G>A
ENST00000681298.1:n.1674G>A
ENST00000681454.1:c.*4097G>A	ENSP00000505763.1:n.*4097G>A
ENST00000277541.6:c.4861G>A	ENSP00000277541.6:p.Gly1621Ser
ENST00000494783.1:n.16G>A
NM_017617.3:c.4861G>A	NP_060087.3:p.Gly1621Ser
XM_011518717.1:c.4162G>A	XP_011517019.1:p.Gly1388Ser
NM_017617.5:c.4861G>A MANE Select	NP_060087.3:p.Gly1621Ser
XM_011518717.2:c.4138G>A	XP_011517019.2:p.Gly1380Ser