Canonical Allele Identifier: CA404524662
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15297944G>T (hg19) chr19:g.15187133G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187133G>T , CM000681.2:g.15187133G>T GRCh38
NC_000019.9:g.15297944G>T , CM000681.1:g.15297944G>T GRCh37
NC_000019.8:g.15158944G>T NCBI36
NG_009819.1:g.18849C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1812C>A MANE Select ENSP00000263388.1:p.Tyr604Ter
ENST00000263388.6:c.1812C>A ENSP00000263388.1:p.Tyr604Ter
ENST00000601011.1:c.1809C>A ENSP00000473138.1:p.Tyr603Ter
NM_000435.2:c.1812C>A NP_000426.2:p.Tyr604Ter
XM_005259924.3:c.1812C>A XP_005259981.1:p.Tyr604Ter
XM_005259924.4:c.1812C>A XP_005259981.1:p.Tyr604Ter
NM_000435.3:c.1812C>A MANE Select NP_000426.2:p.Tyr604Ter
Search 100 bp 5'
Search 100 bp 3'