Canonical Allele Identifier: CA993904872
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1599389710
gnomAD v3: 19-15187477-C-T
gnomAD v4: 19-15187477-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187477C>T , CM000681.2:g.15187477C>T GRCh38
NC_000019.9:g.15298288C>T , CM000681.1:g.15298288C>T GRCh37
NC_000019.8:g.15159288C>T NCBI36
NG_009819.1:g.18505G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-139G>A MANE Select ENSP00000263388.1:n.1607-139G>A
ENST00000263388.6:c.1607-139G>A ENSP00000263388.1:n.1607-139G>A
ENST00000601011.1:c.1604-139G>A ENSP00000473138.1:n.1604-139G>A
NM_000435.2:c.1607-139G>A NP_000426.2:n.1607-139G>A
XM_005259924.3:c.1607-139G>A XP_005259981.1:n.1607-139G>A
XM_005259924.4:c.1607-139G>A XP_005259981.1:n.1607-139G>A
NM_000435.3:c.1607-139G>A MANE Select NP_000426.2:n.1607-139G>A
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