Canonical Allele Identifier: CA9263861
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs770452743
ExAC: 19:15302875 G / A
gnomAD v2: 19-15302875-G-A
gnomAD v4: 19-15192064-G-A
MyVariant Identifiers: chr19:g.15302875G>A (hg19) chr19:g.15192064G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192064G>A , CM000681.2:g.15192064G>A GRCh38
NC_000019.9:g.15302875G>A , CM000681.1:g.15302875G>A GRCh37
NC_000019.8:g.15163875G>A NCBI36
NG_009819.1:g.13918C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.575C>T MANE Select ENSP00000263388.1:p.Pro192Leu
ENST00000263388.6:c.575C>T ENSP00000263388.1:p.Pro192Leu
ENST00000601011.1:c.572C>T ENSP00000473138.1:p.Pro191Leu
NM_000435.2:c.575C>T NP_000426.2:p.Pro192Leu
XM_005259924.3:c.575C>T XP_005259981.1:p.Pro192Leu
XM_005259924.4:c.575C>T XP_005259981.1:p.Pro192Leu
NM_000435.3:c.575C>T MANE Select NP_000426.2:p.Pro192Leu
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