Canonical Allele Identifier: CA201587595

Gene: NOTCH1

Linked Data

• dbSNP Id: rs115279689
• gnomAD v2: 9-139412520-C-T
• gnomAD v3: 9-136518068-C-T
• gnomAD v4: 9-136518068-C-T
• MyVariant Identifiers: chr9:g.139412520C>T (hg19) ; chr9:g.136518068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518068C>T , CM000671.2:g.136518068C>T	GRCh38
NC_000009.11:g.139412520C>T , CM000671.1:g.139412520C>T	GRCh37
NC_000009.10:g.138532341C>T	NCBI36
NG_007458.1:g.32719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1255+69G>A MANE Select	ENSP00000498587.1:n.1255+69G>A
ENST00000679595.1:c.1255+69G>A	ENSP00000506241.1:n.1255+69G>A
ENST00000680133.1:c.1255+69G>A	ENSP00000505319.1:n.1255+69G>A
ENST00000680218.1:c.1255+69G>A	ENSP00000505339.1:n.1255+69G>A
ENST00000680668.1:c.1255+69G>A	ENSP00000506336.1:n.1255+69G>A
ENST00000680924.1:c.1255+69G>A	ENSP00000506031.1:n.1255+69G>A
ENST00000681135.1:c.1255+69G>A	ENSP00000506636.1:n.1255+69G>A
ENST00000681454.1:c.*491+69G>A	ENSP00000505763.1:n.*491+69G>A
ENST00000277541.6:c.1255+69G>A	ENSP00000277541.6:n.1255+69G>A
NM_017617.3:c.1255+69G>A	NP_060087.3:n.1255+69G>A
XM_011518717.1:c.556+69G>A	XP_011517019.1:n.556+69G>A
NM_017617.5:c.1255+69G>A MANE Select	NP_060087.3:n.1255+69G>A
XM_011518717.2:c.532+69G>A	XP_011517019.2:n.532+69G>A