Canonical Allele Identifier: CA375631874

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391814C>A (hg19) ; chr9:g.136497362C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497362C>A , CM000671.2:g.136497362C>A	GRCh38
NC_000009.11:g.139391814C>A , CM000671.1:g.139391814C>A	GRCh37
NC_000009.10:g.138511635C>A	NCBI36
NG_007458.1:g.53425G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6377G>T MANE Select	ENSP00000498587.1:p.Gly2126Val
ENST00000679595.1:c.*1417G>T	ENSP00000506241.1:n.*1417G>T
ENST00000679969.1:n.2973G>T
ENST00000680003.1:n.2709G>T
ENST00000680133.1:c.6263G>T	ENSP00000505319.1:p.Gly2088Val
ENST00000680218.1:c.6257G>T	ENSP00000505339.1:p.Gly2086Val
ENST00000680668.1:c.6263G>T	ENSP00000506336.1:p.Gly2088Val
ENST00000680778.1:c.3974G>T	ENSP00000506033.1:p.Gly1325Val
ENST00000680924.1:c.*3777G>T	ENSP00000506031.1:n.*3777G>T
ENST00000681135.1:c.*3986G>T	ENSP00000506636.1:n.*3986G>T
ENST00000681298.1:n.4482G>T
ENST00000681454.1:c.*5613G>T	ENSP00000505763.1:n.*5613G>T
ENST00000277541.6:c.6377G>T	ENSP00000277541.6:p.Gly2126Val
NM_017617.3:c.6377G>T	NP_060087.3:p.Gly2126Val
XM_011518717.1:c.5678G>T	XP_011517019.1:p.Gly1893Val
NM_017617.5:c.6377G>T MANE Select	NP_060087.3:p.Gly2126Val
XM_011518717.2:c.5654G>T	XP_011517019.2:p.Gly1885Val