Canonical Allele Identifier: CA631945150
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1399888795
gnomAD v2: 19-15298294-A-AC
gnomAD v3: 19-15187483-A-AC
gnomAD v4: 19-15187483-A-AC
MyVariant Identifiers: chr19:g.15298294_15298295insC (hg19) chr19:g.15187483_15187484insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187489dup , CM000681.2:g.15187489dup GRCh38
NC_000019.9:g.15298300dup , CM000681.1:g.15298300dup GRCh37
NC_000019.8:g.15159300dup NCBI36
NG_009819.1:g.18498dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-146dup MANE Select ENSP00000263388.1:n.1607-146dup
ENST00000263388.6:c.1607-146dup ENSP00000263388.1:n.1607-146dup
ENST00000601011.1:c.1604-146dup ENSP00000473138.1:n.1604-146dup
NM_000435.2:c.1607-146dup NP_000426.2:n.1607-146dup
XM_005259924.3:c.1607-146dup XP_005259981.1:n.1607-146dup
XM_005259924.4:c.1607-146dup XP_005259981.1:n.1607-146dup
NM_000435.3:c.1607-146dup MANE Select NP_000426.2:n.1607-146dup
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