Canonical Allele Identifier: CA5341802

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 515215
• ClinVar RCV Id: RCV000609702
• dbSNP Id: rs760171880
• ExAC: 9:139412186 T / C
• gnomAD v2: 9-139412186-T-C
• gnomAD v3: 9-136517734-T-C
• gnomAD v4: 9-136517734-T-C
• MyVariant Identifiers: chr9:g.139412186T>C (hg19) ; chr9:g.136517734T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517734T>C , CM000671.2:g.136517734T>C	GRCh38
NC_000009.11:g.139412186T>C , CM000671.1:g.139412186T>C	GRCh37
NC_000009.10:g.138532007T>C	NCBI36
NG_007458.1:g.33053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1441+18A>G MANE Select	ENSP00000498587.1:n.1441+18A>G
ENST00000679595.1:c.1441+18A>G	ENSP00000506241.1:n.1441+18A>G
ENST00000680133.1:c.1441+18A>G	ENSP00000505319.1:n.1441+18A>G
ENST00000680218.1:c.1441+18A>G	ENSP00000505339.1:n.1441+18A>G
ENST00000680668.1:c.1441+18A>G	ENSP00000506336.1:n.1441+18A>G
ENST00000680924.1:c.1441+18A>G	ENSP00000506031.1:n.1441+18A>G
ENST00000681135.1:c.1441+18A>G	ENSP00000506636.1:n.1441+18A>G
ENST00000681454.1:c.*677+18A>G	ENSP00000505763.1:n.*677+18A>G
ENST00000277541.6:c.1441+18A>G	ENSP00000277541.6:n.1441+18A>G
NM_017617.3:c.1441+18A>G	NP_060087.3:n.1441+18A>G
XM_011518717.1:c.742+18A>G	XP_011517019.1:n.742+18A>G
NM_017617.5:c.1441+18A>G MANE Select	NP_060087.3:n.1441+18A>G
XM_011518717.2:c.718+18A>G	XP_011517019.2:n.718+18A>G