Canonical Allele Identifier: CA404524688
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2046888614
MyVariant Identifiers: chr19:g.15297951T>C (hg19) chr19:g.15187140T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187140T>C , CM000681.2:g.15187140T>C GRCh38
NC_000019.9:g.15297951T>C , CM000681.1:g.15297951T>C GRCh37
NC_000019.8:g.15158951T>C NCBI36
NG_009819.1:g.18842A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.1805A>G MANE Select ENSP00000263388.1:p.Asp602Gly
ENST00000263388.6:c.1805A>G ENSP00000263388.1:p.Asp602Gly
ENST00000601011.1:c.1802A>G ENSP00000473138.1:p.Asp601Gly
NM_000435.2:c.1805A>G NP_000426.2:p.Asp602Gly
XM_005259924.3:c.1805A>G XP_005259981.1:p.Asp602Gly
XM_005259924.4:c.1805A>G XP_005259981.1:p.Asp602Gly
NM_000435.3:c.1805A>G MANE Select NP_000426.2:p.Asp602Gly
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