Canonical Allele Identifier: CA993900461
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2046831169
gnomAD v3: 19-15180605-G-A
gnomAD v4: 19-15180605-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180605G>A , CM000681.2:g.15180605G>A GRCh38
NC_000019.9:g.15291416G>A , CM000681.1:g.15291416G>A GRCh37
NC_000019.8:g.15152416G>A NCBI36
NG_009819.1:g.25377C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3142+76C>T MANE Select ENSP00000263388.1:n.3142+76C>T
ENST00000263388.6:c.3142+76C>T ENSP00000263388.1:n.3142+76C>T
ENST00000601011.1:c.2983+76C>T ENSP00000473138.1:n.2983+76C>T
NM_000435.2:c.3142+76C>T NP_000426.2:n.3142+76C>T
XM_005259924.3:c.2986+76C>T XP_005259981.1:n.2986+76C>T
XM_005259924.4:c.2986+76C>T XP_005259981.1:n.2986+76C>T
NM_000435.3:c.3142+76C>T MANE Select NP_000426.2:n.3142+76C>T
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