Canonical Allele Identifier: CA201637580

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1034253073
• gnomAD v2: 9-139393399-T-C
• gnomAD v3: 9-136498947-T-C
• gnomAD v4: 9-136498947-T-C
• MyVariant Identifiers: chr9:g.139393399T>C (hg19) ; chr9:g.136498947T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498947T>C , CM000671.2:g.136498947T>C	GRCh38
NC_000009.11:g.139393399T>C , CM000671.1:g.139393399T>C	GRCh37
NC_000009.10:g.138513220T>C	NCBI36
NG_007458.1:g.51840A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6132A>G MANE Select	ENSP00000498587.1:p.Ala2044=
ENST00000679595.1:c.*1172A>G	ENSP00000506241.1:n.*1172A>G
ENST00000679969.1:n.2728A>G
ENST00000680003.1:n.2464A>G
ENST00000680133.1:c.6018A>G	ENSP00000505319.1:p.Ala2006=
ENST00000680218.1:c.6012A>G	ENSP00000505339.1:p.Ala2004=
ENST00000680668.1:c.6018A>G	ENSP00000506336.1:p.Ala2006=
ENST00000680778.1:c.3729A>G	ENSP00000506033.1:p.Ala1243=
ENST00000680924.1:c.*3532A>G	ENSP00000506031.1:n.*3532A>G
ENST00000681135.1:c.*3741A>G	ENSP00000506636.1:n.*3741A>G
ENST00000681298.1:n.4237A>G
ENST00000681454.1:c.*5368A>G	ENSP00000505763.1:n.*5368A>G
ENST00000277541.6:c.6132A>G	ENSP00000277541.6:p.Ala2044=
NM_017617.3:c.6132A>G	NP_060087.3:p.Ala2044=
XM_011518717.1:c.5433A>G	XP_011517019.1:p.Ala1811=
NM_017617.5:c.6132A>G MANE Select	NP_060087.3:p.Ala2044=
XM_011518717.2:c.5409A>G	XP_011517019.2:p.Ala1803=