Canonical Allele Identifier: CA305777900
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1044530189
COSMIC: COSM5579114 COSM5579115
MyVariant Identifiers: chr19:g.15302877C>T (hg19) chr19:g.15192066C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192066C>T , CM000681.2:g.15192066C>T GRCh38
NC_000019.9:g.15302877C>T , CM000681.1:g.15302877C>T GRCh37
NC_000019.8:g.15163877C>T NCBI36
NG_009819.1:g.13916G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.573G>A MANE Select ENSP00000263388.1:p.Gly191=
ENST00000263388.6:c.573G>A ENSP00000263388.1:p.Gly191=
ENST00000601011.1:c.570G>A ENSP00000473138.1:p.Gly190=
NM_000435.2:c.573G>A NP_000426.2:p.Gly191=
XM_005259924.3:c.573G>A XP_005259981.1:p.Gly191=
XM_005259924.4:c.573G>A XP_005259981.1:p.Gly191=
NM_000435.3:c.573G>A MANE Select NP_000426.2:p.Gly191=
Search 100 bp 5'
Search 100 bp 3'