Canonical Allele Identifier: CA340885
Gene: NOTCH3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.15192095G>A
GRCh37 chr19:g.15302906G>A
Revel Score:
ENST00000263388 (MANE Select) 0.789
ENST00000539383 0.789
gnomAD v2:
19:15302906 G / A
gnomAD v3:
19:15192095 G / A
gnomAD v4:
chr19-15192095-G-A
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV000009801
RCV000517955
ClinVar Variation:
9220
dbSNP:
28933697
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192095G>A , CM000681.2:g.15192095G>A GRCh38
NC_000019.9:g.15302906G>A , CM000681.1:g.15302906G>A GRCh37
NC_000019.8:g.15163906G>A NCBI36
NG_009819.1:g.13887C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.544C>T MANE Select ENSP00000263388.1:p.Arg182Cys
ENST00000263388.6:c.544C>T ENSP00000263388.1:p.Arg182Cys
ENST00000601011.1:c.541C>T ENSP00000473138.1:p.Arg181Cys
NM_000435.2:c.544C>T NP_000426.2:p.Arg182Cys
XM_005259924.3:c.544C>T XP_005259981.1:p.Arg182Cys
XM_005259924.4:c.544C>T XP_005259981.1:p.Arg182Cys
NM_000435.3:c.544C>T MANE Select NP_000426.2:p.Arg182Cys
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