Canonical Allele Identifier: CA9263880
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs745367307
ExAC: 19:15302984 G / A
gnomAD v2: 19-15302984-G-A
gnomAD v4: 19-15192173-G-A
COSMIC: COSM6190985 COSM6190986
MyVariant Identifiers: chr19:g.15302984G>A (hg19) chr19:g.15192173G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192173G>A , CM000681.2:g.15192173G>A GRCh38
NC_000019.9:g.15302984G>A , CM000681.1:g.15302984G>A GRCh37
NC_000019.8:g.15163984G>A NCBI36
NG_009819.1:g.13809C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.466C>T MANE Select ENSP00000263388.1:p.Arg156Ter
ENST00000263388.6:c.466C>T ENSP00000263388.1:p.Arg156Ter
ENST00000601011.1:c.463C>T ENSP00000473138.1:p.Arg155Ter
NM_000435.2:c.466C>T NP_000426.2:p.Arg156Ter
XM_005259924.3:c.466C>T XP_005259981.1:p.Arg156Ter
XM_005259924.4:c.466C>T XP_005259981.1:p.Arg156Ter
NM_000435.3:c.466C>T MANE Select NP_000426.2:p.Arg156Ter
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