Canonical Allele Identifier: CA5340050

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2157960
• ClinVar RCV Id: RCV003093417 ; RCV003161739
• dbSNP Id: rs369621601
• ExAC: 9:139393581 T / C
• gnomAD v2: 9-139393581-T-C
• gnomAD v3: 9-136499129-T-C
• gnomAD v4: 9-136499129-T-C
• MyVariant Identifiers: chr9:g.139393581T>C (hg19) ; chr9:g.136499129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499129T>C , CM000671.2:g.136499129T>C	GRCh38
NC_000009.11:g.139393581T>C , CM000671.1:g.139393581T>C	GRCh37
NC_000009.10:g.138513402T>C	NCBI36
NG_007458.1:g.51658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6065A>G MANE Select	ENSP00000498587.1:p.Asn2022Ser
ENST00000679595.1:c.*1105A>G	ENSP00000506241.1:n.*1105A>G
ENST00000679969.1:n.2546A>G
ENST00000680003.1:n.2397A>G
ENST00000680133.1:c.5951A>G	ENSP00000505319.1:p.Asn1984Ser
ENST00000680218.1:c.5945A>G	ENSP00000505339.1:p.Asn1982Ser
ENST00000680668.1:c.5951A>G	ENSP00000506336.1:p.Asn1984Ser
ENST00000680778.1:c.3662A>G	ENSP00000506033.1:p.Asn1221Ser
ENST00000680924.1:c.*3465A>G	ENSP00000506031.1:n.*3465A>G
ENST00000681135.1:c.*3674A>G	ENSP00000506636.1:n.*3674A>G
ENST00000681298.1:n.4170A>G
ENST00000681454.1:c.*5301A>G	ENSP00000505763.1:n.*5301A>G
ENST00000277541.6:c.6065A>G	ENSP00000277541.6:p.Asn2022Ser
NM_017617.3:c.6065A>G	NP_060087.3:p.Asn2022Ser
XM_011518717.1:c.5366A>G	XP_011517019.1:p.Asn1789Ser
NM_017617.5:c.6065A>G MANE Select	NP_060087.3:p.Asn2022Ser
XM_011518717.2:c.5342A>G	XP_011517019.2:p.Asn1781Ser