Canonical Allele Identifier: CA201637513

Gene: NOTCH1

Linked Data

• dbSNP Id: rs376619758
• gnomAD v2: 9-139393325-C-G
• gnomAD v3: 9-136498873-C-G
• gnomAD v4: 9-136498873-C-G
• MyVariant Identifiers: chr9:g.139393325C>G (hg19) ; chr9:g.136498873C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498873C>G , CM000671.2:g.136498873C>G	GRCh38
NC_000009.11:g.139393325C>G , CM000671.1:g.139393325C>G	GRCh37
NC_000009.10:g.138513146C>G	NCBI36
NG_007458.1:g.51914G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6180+26G>C MANE Select	ENSP00000498587.1:n.6180+26G>C
ENST00000679595.1:c.*1220+26G>C	ENSP00000506241.1:n.*1220+26G>C
ENST00000679969.1:n.2776+26G>C
ENST00000680003.1:n.2512+26G>C
ENST00000680133.1:c.6066+26G>C	ENSP00000505319.1:n.6066+26G>C
ENST00000680218.1:c.6060+26G>C	ENSP00000505339.1:n.6060+26G>C
ENST00000680668.1:c.6066+26G>C	ENSP00000506336.1:n.6066+26G>C
ENST00000680778.1:c.3777+26G>C	ENSP00000506033.1:n.3777+26G>C
ENST00000680924.1:c.*3580+26G>C	ENSP00000506031.1:n.*3580+26G>C
ENST00000681135.1:c.*3789+26G>C	ENSP00000506636.1:n.*3789+26G>C
ENST00000681298.1:n.4285+26G>C
ENST00000681454.1:c.*5416+26G>C	ENSP00000505763.1:n.*5416+26G>C
ENST00000277541.6:c.6180+26G>C	ENSP00000277541.6:n.6180+26G>C
NM_017617.3:c.6180+26G>C	NP_060087.3:n.6180+26G>C
XM_011518717.1:c.5481+26G>C	XP_011517019.1:n.5481+26G>C
NM_017617.5:c.6180+26G>C MANE Select	NP_060087.3:n.6180+26G>C
XM_011518717.2:c.5457+26G>C	XP_011517019.2:n.5457+26G>C