Canonical Allele Identifier: CA5340049

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2199288
• ClinVar RCV Id: RCV002634268
• dbSNP Id: rs553831698
• ExAC: 9:139393580 G / A
• gnomAD v2: 9-139393580-G-A
• gnomAD v3: 9-136499128-G-A
• gnomAD v4: 9-136499128-G-A
• COSMIC: COSM3699563 ; COSM3699564
• MyVariant Identifiers: chr9:g.139393580G>A (hg19) ; chr9:g.136499128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499128G>A , CM000671.2:g.136499128G>A	GRCh38
NC_000009.11:g.139393580G>A , CM000671.1:g.139393580G>A	GRCh37
NC_000009.10:g.138513401G>A	NCBI36
NG_007458.1:g.51659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6066C>T MANE Select	ENSP00000498587.1:p.Asn2022=
ENST00000679595.1:c.*1106C>T	ENSP00000506241.1:n.*1106C>T
ENST00000679969.1:n.2547C>T
ENST00000680003.1:n.2398C>T
ENST00000680133.1:c.5952C>T	ENSP00000505319.1:p.Asn1984=
ENST00000680218.1:c.5946C>T	ENSP00000505339.1:p.Asn1982=
ENST00000680668.1:c.5952C>T	ENSP00000506336.1:p.Asn1984=
ENST00000680778.1:c.3663C>T	ENSP00000506033.1:p.Asn1221=
ENST00000680924.1:c.*3466C>T	ENSP00000506031.1:n.*3466C>T
ENST00000681135.1:c.*3675C>T	ENSP00000506636.1:n.*3675C>T
ENST00000681298.1:n.4171C>T
ENST00000681454.1:c.*5302C>T	ENSP00000505763.1:n.*5302C>T
ENST00000277541.6:c.6066C>T	ENSP00000277541.6:p.Asn2022=
NM_017617.3:c.6066C>T	NP_060087.3:p.Asn2022=
XM_011518717.1:c.5367C>T	XP_011517019.1:p.Asn1789=
NM_017617.5:c.6066C>T MANE Select	NP_060087.3:p.Asn2022=
XM_011518717.2:c.5343C>T	XP_011517019.2:p.Asn1781=