Canonical Allele Identifier: CA2583064666
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15187448-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187448G>C , CM000681.2:g.15187448G>C GRCh38
NC_000019.9:g.15298259G>C , CM000681.1:g.15298259G>C GRCh37
NC_000019.8:g.15159259G>C NCBI36
NG_009819.1:g.18534C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-110C>G MANE Select ENSP00000263388.1:n.1607-110C>G
ENST00000263388.6:c.1607-110C>G ENSP00000263388.1:n.1607-110C>G
ENST00000601011.1:c.1604-110C>G ENSP00000473138.1:n.1604-110C>G
NM_000435.2:c.1607-110C>G NP_000426.2:n.1607-110C>G
XM_005259924.3:c.1607-110C>G XP_005259981.1:n.1607-110C>G
XM_005259924.4:c.1607-110C>G XP_005259981.1:n.1607-110C>G
NM_000435.3:c.1607-110C>G MANE Select NP_000426.2:n.1607-110C>G
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