Canonical Allele Identifier: CA375562792

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136517756-C-A
• MyVariant Identifiers: chr9:g.139412208C>A (hg19) ; chr9:g.136517756C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517756C>A , CM000671.2:g.136517756C>A	GRCh38
NC_000009.11:g.139412208C>A , CM000671.1:g.139412208C>A	GRCh37
NC_000009.10:g.138532029C>A	NCBI36
NG_007458.1:g.33031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1437G>T MANE Select	ENSP00000498587.1:p.Met479Ile
ENST00000679595.1:c.1437G>T	ENSP00000506241.1:p.Met479Ile
ENST00000680133.1:c.1437G>T	ENSP00000505319.1:p.Met479Ile
ENST00000680218.1:c.1437G>T	ENSP00000505339.1:p.Met479Ile
ENST00000680668.1:c.1437G>T	ENSP00000506336.1:p.Met479Ile
ENST00000680924.1:c.1437G>T	ENSP00000506031.1:p.Met479Ile
ENST00000681135.1:c.1437G>T	ENSP00000506636.1:p.Met479Ile
ENST00000681454.1:c.*673G>T	ENSP00000505763.1:n.*673G>T
ENST00000277541.6:c.1437G>T	ENSP00000277541.6:p.Met479Ile
NM_017617.3:c.1437G>T	NP_060087.3:p.Met479Ile
XM_011518717.1:c.738G>T	XP_011517019.1:p.Met246Ile
NM_017617.5:c.1437G>T MANE Select	NP_060087.3:p.Met479Ile
XM_011518717.2:c.714G>T	XP_011517019.2:p.Met238Ile