Canonical Allele Identifier: CA505824507
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15180237-C-G
MyVariant Identifiers: chr19:g.15291048C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180237C>G , CM000681.2:g.15180237C>G GRCh38
NC_000019.9:g.15291048C>G , CM000681.1:g.15291048C>G GRCh37
NC_000019.8:g.15152048C>G NCBI36
NG_009819.1:g.25745G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3162G>C MANE Select ENSP00000263388.1:p.Leu1054=
ENST00000263388.6:c.3162G>C ENSP00000263388.1:p.Leu1054=
ENST00000601011.1:c.3003G>C ENSP00000473138.1:p.Leu1001=
NM_000435.2:c.3162G>C NP_000426.2:p.Leu1054=
XM_005259924.3:c.3006G>C XP_005259981.1:p.Leu1002=
XM_005259924.4:c.3006G>C XP_005259981.1:p.Leu1002=
NM_000435.3:c.3162G>C MANE Select NP_000426.2:p.Leu1054=
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