Canonical Allele Identifier: CA5339895

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1043782
• ClinVar RCV Id: RCV001347941
• dbSNP Id: rs368287903
• ExAC: 9:139391735 G / A
• gnomAD v2: 9-139391735-G-A
• gnomAD v3: 9-136497283-G-A
• gnomAD v4: 9-136497283-G-A
• MyVariant Identifiers: chr9:g.139391735G>A (hg19) ; chr9:g.136497283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497283G>A , CM000671.2:g.136497283G>A	GRCh38
NC_000009.11:g.139391735G>A , CM000671.1:g.139391735G>A	GRCh37
NC_000009.10:g.138511556G>A	NCBI36
NG_007458.1:g.53504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6456C>T MANE Select	ENSP00000498587.1:p.Gly2152=
ENST00000679595.1:c.*1496C>T	ENSP00000506241.1:n.*1496C>T
ENST00000679969.1:n.3052C>T
ENST00000680003.1:n.2788C>T
ENST00000680133.1:c.6342C>T	ENSP00000505319.1:p.Gly2114=
ENST00000680218.1:c.6336C>T	ENSP00000505339.1:p.Gly2112=
ENST00000680668.1:c.6342C>T	ENSP00000506336.1:p.Gly2114=
ENST00000680778.1:c.4053C>T	ENSP00000506033.1:p.Gly1351=
ENST00000680924.1:c.*3856C>T	ENSP00000506031.1:n.*3856C>T
ENST00000681135.1:c.*4065C>T	ENSP00000506636.1:n.*4065C>T
ENST00000681298.1:n.4561C>T
ENST00000681454.1:c.*5692C>T	ENSP00000505763.1:n.*5692C>T
ENST00000277541.6:c.6456C>T	ENSP00000277541.6:p.Gly2152=
NM_017617.3:c.6456C>T	NP_060087.3:p.Gly2152=
XM_011518717.1:c.5757C>T	XP_011517019.1:p.Gly1919=
NM_017617.5:c.6456C>T MANE Select	NP_060087.3:p.Gly2152=
XM_011518717.2:c.5733C>T	XP_011517019.2:p.Gly1911=