Canonical Allele Identifier: CA506078447
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15297962T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187151T>C , CM000681.2:g.15187151T>C GRCh38
NC_000019.9:g.15297962T>C , CM000681.1:g.15297962T>C GRCh37
NC_000019.8:g.15158962T>C NCBI36
NG_009819.1:g.18831A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.1794A>G MANE Select ENSP00000263388.1:p.Leu598=
ENST00000263388.6:c.1794A>G ENSP00000263388.1:p.Leu598=
ENST00000601011.1:c.1791A>G ENSP00000473138.1:p.Leu597=
NM_000435.2:c.1794A>G NP_000426.2:p.Leu598=
XM_005259924.3:c.1794A>G XP_005259981.1:p.Leu598=
XM_005259924.4:c.1794A>G XP_005259981.1:p.Leu598=
NM_000435.3:c.1794A>G MANE Select NP_000426.2:p.Leu598=
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