Canonical Allele Identifier: CA404525196
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1722300
ClinVar RCV Id: RCV002302418
MyVariant Identifiers: chr19:g.15298058G>C (hg19) chr19:g.15187247G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187247G>C , CM000681.2:g.15187247G>C GRCh38
NC_000019.9:g.15298058G>C , CM000681.1:g.15298058G>C GRCh37
NC_000019.8:g.15159058G>C NCBI36
NG_009819.1:g.18735C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1698C>G MANE Select ENSP00000263388.1:p.Phe566Leu
ENST00000263388.6:c.1698C>G ENSP00000263388.1:p.Phe566Leu
ENST00000601011.1:c.1695C>G ENSP00000473138.1:p.Phe565Leu
NM_000435.2:c.1698C>G NP_000426.2:p.Phe566Leu
XM_005259924.3:c.1698C>G XP_005259981.1:p.Phe566Leu
XM_005259924.4:c.1698C>G XP_005259981.1:p.Phe566Leu
NM_000435.3:c.1698C>G MANE Select NP_000426.2:p.Phe566Leu
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