Canonical Allele Identifier: CA5340511

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1487918
• ClinVar RCV Id: RCV002008933
• dbSNP Id: rs763765573
• ExAC: 9:139399333 C / T
• gnomAD v2: 9-139399333-C-T
• gnomAD v3: 9-136504881-C-T
• gnomAD v4: 9-136504881-C-T
• MyVariant Identifiers: chr9:g.139399333C>T (hg19) ; chr9:g.136504881C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504881C>T , CM000671.2:g.136504881C>T	GRCh38
NC_000009.11:g.139399333C>T , CM000671.1:g.139399333C>T	GRCh37
NC_000009.10:g.138519154C>T	NCBI36
NG_007458.1:g.45906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2617G>A
ENST00000651671.1:c.4810G>A MANE Select	ENSP00000498587.1:p.Val1604Met
ENST00000679595.1:c.4810G>A	ENSP00000506241.1:p.Val1604Met
ENST00000680133.1:c.4696G>A	ENSP00000505319.1:p.Val1566Met
ENST00000680218.1:c.4690G>A	ENSP00000505339.1:p.Val1564Met
ENST00000680668.1:c.4696G>A	ENSP00000506336.1:p.Val1566Met
ENST00000680778.1:c.2407G>A	ENSP00000506033.1:p.Val803Met
ENST00000680924.1:c.*2210G>A	ENSP00000506031.1:n.*2210G>A
ENST00000681135.1:c.*2419G>A	ENSP00000506636.1:n.*2419G>A
ENST00000681298.1:n.1623G>A
ENST00000681454.1:c.*4046G>A	ENSP00000505763.1:n.*4046G>A
ENST00000277541.6:c.4810G>A	ENSP00000277541.6:p.Val1604Met
NM_017617.3:c.4810G>A	NP_060087.3:p.Val1604Met
XM_011518717.1:c.4111G>A	XP_011517019.1:p.Val1371Met
NM_017617.5:c.4810G>A MANE Select	NP_060087.3:p.Val1604Met
XM_011518717.2:c.4087G>A	XP_011517019.2:p.Val1363Met