Canonical Allele Identifier: CA2579518509

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842958576
• gnomAD v4: 9-136499058-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499058G>A , CM000671.2:g.136499058G>A	GRCh38
NC_000009.11:g.139393510G>A , CM000671.1:g.139393510G>A	GRCh37
NC_000009.10:g.138513331G>A	NCBI36
NG_007458.1:g.51729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6082+54C>T MANE Select	ENSP00000498587.1:n.6082+54C>T
ENST00000679595.1:c.*1122+54C>T	ENSP00000506241.1:n.*1122+54C>T
ENST00000679969.1:n.2617C>T
ENST00000680003.1:n.2414+54C>T
ENST00000680133.1:c.5968+54C>T	ENSP00000505319.1:n.5968+54C>T
ENST00000680218.1:c.5962+54C>T	ENSP00000505339.1:n.5962+54C>T
ENST00000680668.1:c.5968+54C>T	ENSP00000506336.1:n.5968+54C>T
ENST00000680778.1:c.3679+54C>T	ENSP00000506033.1:n.3679+54C>T
ENST00000680924.1:c.*3482+54C>T	ENSP00000506031.1:n.*3482+54C>T
ENST00000681135.1:c.*3691+54C>T	ENSP00000506636.1:n.*3691+54C>T
ENST00000681298.1:n.4187+54C>T
ENST00000681454.1:c.*5318+54C>T	ENSP00000505763.1:n.*5318+54C>T
ENST00000277541.6:c.6082+54C>T	ENSP00000277541.6:n.6082+54C>T
NM_017617.3:c.6082+54C>T	NP_060087.3:n.6082+54C>T
XM_011518717.1:c.5383+54C>T	XP_011517019.1:n.5383+54C>T
NM_017617.5:c.6082+54C>T MANE Select	NP_060087.3:n.6082+54C>T
XM_011518717.2:c.5359+54C>T	XP_011517019.2:n.5359+54C>T