Canonical Allele Identifier: CA506078440
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15187147-G-A
MyVariant Identifiers: chr19:g.15297958G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187147G>A , CM000681.2:g.15187147G>A GRCh38
NC_000019.9:g.15297958G>A , CM000681.1:g.15297958G>A GRCh37
NC_000019.8:g.15158958G>A NCBI36
NG_009819.1:g.18835C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1798C>T MANE Select ENSP00000263388.1:p.Leu600=
ENST00000263388.6:c.1798C>T ENSP00000263388.1:p.Leu600=
ENST00000601011.1:c.1795C>T ENSP00000473138.1:p.Leu599=
NM_000435.2:c.1798C>T NP_000426.2:p.Leu600=
XM_005259924.3:c.1798C>T XP_005259981.1:p.Leu600=
XM_005259924.4:c.1798C>T XP_005259981.1:p.Leu600=
NM_000435.3:c.1798C>T MANE Select NP_000426.2:p.Leu600=
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