Canonical Allele Identifier: CA506078426
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1329556774
MyVariant Identifiers: chr19:g.15297783C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186972C>T , CM000681.2:g.15186972C>T GRCh38
NC_000019.9:g.15297783C>T , CM000681.1:g.15297783C>T GRCh37
NC_000019.8:g.15158783C>T NCBI36
NG_009819.1:g.19010G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1857G>A MANE Select ENSP00000263388.1:p.Val619=
ENST00000263388.6:c.1857G>A ENSP00000263388.1:p.Val619=
ENST00000601011.1:c.1854G>A ENSP00000473138.1:p.Val618=
NM_000435.2:c.1857G>A NP_000426.2:p.Val619=
XM_005259924.3:c.1857G>A XP_005259981.1:p.Val619=
XM_005259924.4:c.1857G>A XP_005259981.1:p.Val619=
NM_000435.3:c.1857G>A MANE Select NP_000426.2:p.Val619=
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