Canonical Allele Identifier: CA404525918
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15298078C>G (hg19) chr19:g.15187267C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187267C>G , CM000681.2:g.15187267C>G GRCh38
NC_000019.9:g.15298078C>G , CM000681.1:g.15298078C>G GRCh37
NC_000019.8:g.15159078C>G NCBI36
NG_009819.1:g.18715G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1678G>C MANE Select ENSP00000263388.1:p.Val560Leu
ENST00000263388.6:c.1678G>C ENSP00000263388.1:p.Val560Leu
ENST00000601011.1:c.1675G>C ENSP00000473138.1:p.Val559Leu
NM_000435.2:c.1678G>C NP_000426.2:p.Val560Leu
XM_005259924.3:c.1678G>C XP_005259981.1:p.Val560Leu
XM_005259924.4:c.1678G>C XP_005259981.1:p.Val560Leu
NM_000435.3:c.1678G>C MANE Select NP_000426.2:p.Val560Leu
Search 100 bp 5'
Search 100 bp 3'