Canonical Allele Identifier: CA9263169
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2037301
ClinVar RCV Id: RCV002882174
dbSNP Id: rs749681172
ExAC: 19:15291085 G / A
gnomAD v2: 19-15291085-G-A
gnomAD v4: 19-15180274-G-A
MyVariant Identifiers: chr19:g.15291085G>A (hg19) chr19:g.15180274G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180274G>A , CM000681.2:g.15180274G>A GRCh38
NC_000019.9:g.15291085G>A , CM000681.1:g.15291085G>A GRCh37
NC_000019.8:g.15152085G>A NCBI36
NG_009819.1:g.25708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3143-18C>T MANE Select ENSP00000263388.1:n.3143-18C>T
ENST00000263388.6:c.3143-18C>T ENSP00000263388.1:n.3143-18C>T
ENST00000601011.1:c.2984-18C>T ENSP00000473138.1:n.2984-18C>T
NM_000435.2:c.3143-18C>T NP_000426.2:n.3143-18C>T
XM_005259924.3:c.2987-18C>T XP_005259981.1:n.2987-18C>T
XM_005259924.4:c.2987-18C>T XP_005259981.1:n.2987-18C>T
NM_000435.3:c.3143-18C>T MANE Select NP_000426.2:n.3143-18C>T
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