Canonical Allele Identifier: CA404524214
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15297749A>G (hg19) chr19:g.15186938A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186938A>G , CM000681.2:g.15186938A>G GRCh38
NC_000019.9:g.15297749A>G , CM000681.1:g.15297749A>G GRCh37
NC_000019.8:g.15158749A>G NCBI36
NG_009819.1:g.19044T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1891T>C MANE Select ENSP00000263388.1:p.Phe631Leu
ENST00000263388.6:c.1891T>C ENSP00000263388.1:p.Phe631Leu
ENST00000601011.1:c.1888T>C ENSP00000473138.1:p.Phe630Leu
NM_000435.2:c.1891T>C NP_000426.2:p.Phe631Leu
XM_005259924.3:c.1891T>C XP_005259981.1:p.Phe631Leu
XM_005259924.4:c.1891T>C XP_005259981.1:p.Phe631Leu
NM_000435.3:c.1891T>C MANE Select NP_000426.2:p.Phe631Leu
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