Canonical Allele Identifier: CA2583064639
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15187435-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187435T>C , CM000681.2:g.15187435T>C GRCh38
NC_000019.9:g.15298246T>C , CM000681.1:g.15298246T>C GRCh37
NC_000019.8:g.15159246T>C NCBI36
NG_009819.1:g.18547A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-97A>G MANE Select ENSP00000263388.1:n.1607-97A>G
ENST00000263388.6:c.1607-97A>G ENSP00000263388.1:n.1607-97A>G
ENST00000601011.1:c.1604-97A>G ENSP00000473138.1:n.1604-97A>G
NM_000435.2:c.1607-97A>G NP_000426.2:n.1607-97A>G
XM_005259924.3:c.1607-97A>G XP_005259981.1:n.1607-97A>G
XM_005259924.4:c.1607-97A>G XP_005259981.1:n.1607-97A>G
NM_000435.3:c.1607-97A>G MANE Select NP_000426.2:n.1607-97A>G
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