Canonical Allele Identifier: CA346558

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 180459
• ClinVar RCV Id: RCV000157395 ; RCV000476688 ; RCV002269929 ; RCV002253254
• dbSNP Id: rs367838230
• ExAC: 9:139399172 G / C
• gnomAD v2: 9-139399172-G-C
• gnomAD v3: 9-136504720-G-C
• gnomAD v4: 9-136504720-G-C
• MyVariant Identifiers: chr9:g.139399172G>C (hg19) ; chr9:g.136504720G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504720G>C , CM000671.2:g.136504720G>C	GRCh38
NC_000009.11:g.139399172G>C , CM000671.1:g.139399172G>C	GRCh37
NC_000009.10:g.138518993G>C	NCBI36
NG_007458.1:g.46067C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2778C>G
ENST00000651671.1:c.4971C>G MANE Select	ENSP00000498587.1:p.Ser1657Arg
ENST00000679595.1:c.4971C>G	ENSP00000506241.1:p.Ser1657Arg
ENST00000680133.1:c.4857C>G	ENSP00000505319.1:p.Ser1619Arg
ENST00000680218.1:c.4851C>G	ENSP00000505339.1:p.Ser1617Arg
ENST00000680668.1:c.4857C>G	ENSP00000506336.1:p.Ser1619Arg
ENST00000680778.1:c.2568C>G	ENSP00000506033.1:p.Ser856Arg
ENST00000680924.1:c.*2371C>G	ENSP00000506031.1:n.*2371C>G
ENST00000681135.1:c.*2580C>G	ENSP00000506636.1:n.*2580C>G
ENST00000681298.1:n.1784C>G
ENST00000681454.1:c.*4207C>G	ENSP00000505763.1:n.*4207C>G
ENST00000277541.6:c.4971C>G	ENSP00000277541.6:p.Ser1657Arg
ENST00000494783.1:n.126C>G
NM_017617.3:c.4971C>G	NP_060087.3:p.Ser1657Arg
XM_011518717.1:c.4272C>G	XP_011517019.1:p.Ser1424Arg
NM_017617.5:c.4971C>G MANE Select	NP_060087.3:p.Ser1657Arg
XM_011518717.2:c.4248C>G	XP_011517019.2:p.Ser1416Arg