Canonical Allele Identifier: CA375644257

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 626868
• ClinVar RCV Id: RCV000770622 ; RCV000801209 ; RCV002271031
• dbSNP Id: rs1243453790
• gnomAD v2: 9-139399191-G-A
• gnomAD v4: 9-136504739-G-A
• COSMIC: COSM4843478 ; COSM4843479
• MyVariant Identifiers: chr9:g.139399191G>A (hg19) ; chr9:g.136504739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504739G>A , CM000671.2:g.136504739G>A	GRCh38
NC_000009.11:g.139399191G>A , CM000671.1:g.139399191G>A	GRCh37
NC_000009.10:g.138519012G>A	NCBI36
NG_007458.1:g.46048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2759C>T
ENST00000651671.1:c.4952C>T MANE Select	ENSP00000498587.1:p.Ser1651Leu
ENST00000679595.1:c.4952C>T	ENSP00000506241.1:p.Ser1651Leu
ENST00000680133.1:c.4838C>T	ENSP00000505319.1:p.Ser1613Leu
ENST00000680218.1:c.4832C>T	ENSP00000505339.1:p.Ser1611Leu
ENST00000680668.1:c.4838C>T	ENSP00000506336.1:p.Ser1613Leu
ENST00000680778.1:c.2549C>T	ENSP00000506033.1:p.Ser850Leu
ENST00000680924.1:c.*2352C>T	ENSP00000506031.1:n.*2352C>T
ENST00000681135.1:c.*2561C>T	ENSP00000506636.1:n.*2561C>T
ENST00000681298.1:n.1765C>T
ENST00000681454.1:c.*4188C>T	ENSP00000505763.1:n.*4188C>T
ENST00000277541.6:c.4952C>T	ENSP00000277541.6:p.Ser1651Leu
ENST00000494783.1:n.107C>T
NM_017617.3:c.4952C>T	NP_060087.3:p.Ser1651Leu
XM_011518717.1:c.4253C>T	XP_011517019.1:p.Ser1418Leu
NM_017617.5:c.4952C>T MANE Select	NP_060087.3:p.Ser1651Leu
XM_011518717.2:c.4229C>T	XP_011517019.2:p.Ser1410Leu