Canonical Allele Identifier: CA340888
Gene: NOTCH3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.15189004A>G
GRCh37 chr19:g.15299815A>G
Revel Score:
ENST00000263388 (MANE Select) 0.965
ENST00000539383 0.965
ClinVar RCV:
RCV000009804
RCV000517813
ClinVar Variation:
9223
dbSNP:
28933698
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15189004A>G , CM000681.2:g.15189004A>G GRCh38
NC_000019.9:g.15299815A>G , CM000681.1:g.15299815A>G GRCh37
NC_000019.8:g.15160815A>G NCBI36
NG_009819.1:g.16978T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1363T>C MANE Select ENSP00000263388.1:p.Cys455Arg
ENST00000263388.6:c.1363T>C ENSP00000263388.1:p.Cys455Arg
ENST00000601011.1:c.1360T>C ENSP00000473138.1:p.Cys454Arg
NM_000435.2:c.1363T>C NP_000426.2:p.Cys455Arg
XM_005259924.3:c.1363T>C XP_005259981.1:p.Cys455Arg
XM_005259924.4:c.1363T>C XP_005259981.1:p.Cys455Arg
NM_000435.3:c.1363T>C MANE Select NP_000426.2:p.Cys455Arg
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