Canonical Allele Identifier: CA506078689
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15302566A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191755A>C , CM000681.2:g.15191755A>C GRCh38
NC_000019.9:g.15302566A>C , CM000681.1:g.15302566A>C GRCh37
NC_000019.8:g.15163566A>C NCBI36
NG_009819.1:g.14227T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.792T>G MANE Select ENSP00000263388.1:p.Pro264=
ENST00000263388.6:c.792T>G ENSP00000263388.1:p.Pro264=
ENST00000601011.1:c.789T>G ENSP00000473138.1:p.Pro263=
NM_000435.2:c.792T>G NP_000426.2:p.Pro264=
XM_005259924.3:c.792T>G XP_005259981.1:p.Pro264=
XM_005259924.4:c.792T>G XP_005259981.1:p.Pro264=
NM_000435.3:c.792T>G MANE Select NP_000426.2:p.Pro264=