Canonical Allele Identifier: CA201643884

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2716527
• ClinVar RCV Id: RCV003586939
• dbSNP Id: rs911387577
• gnomAD v2: 9-139399240-C-T
• gnomAD v3: 9-136504788-C-T
• gnomAD v4: 9-136504788-C-T
• COSMIC: COSM308611
• MyVariant Identifiers: chr9:g.139399240C>T (hg19) ; chr9:g.136504788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504788C>T , CM000671.2:g.136504788C>T	GRCh38
NC_000009.11:g.139399240C>T , CM000671.1:g.139399240C>T	GRCh37
NC_000009.10:g.138519061C>T	NCBI36
NG_007458.1:g.45999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2710G>A
ENST00000651671.1:c.4903G>A MANE Select	ENSP00000498587.1:p.Ala1635Thr
ENST00000679595.1:c.4903G>A	ENSP00000506241.1:p.Ala1635Thr
ENST00000680133.1:c.4789G>A	ENSP00000505319.1:p.Ala1597Thr
ENST00000680218.1:c.4783G>A	ENSP00000505339.1:p.Ala1595Thr
ENST00000680668.1:c.4789G>A	ENSP00000506336.1:p.Ala1597Thr
ENST00000680778.1:c.2500G>A	ENSP00000506033.1:p.Ala834Thr
ENST00000680924.1:c.*2303G>A	ENSP00000506031.1:n.*2303G>A
ENST00000681135.1:c.*2512G>A	ENSP00000506636.1:n.*2512G>A
ENST00000681298.1:n.1716G>A
ENST00000681454.1:c.*4139G>A	ENSP00000505763.1:n.*4139G>A
ENST00000277541.6:c.4903G>A	ENSP00000277541.6:p.Ala1635Thr
ENST00000494783.1:n.58G>A
NM_017617.3:c.4903G>A	NP_060087.3:p.Ala1635Thr
XM_011518717.1:c.4204G>A	XP_011517019.1:p.Ala1402Thr
NM_017617.5:c.4903G>A MANE Select	NP_060087.3:p.Ala1635Thr
XM_011518717.2:c.4180G>A	XP_011517019.2:p.Ala1394Thr