Canonical Allele Identifier: CA404534112
Gene: NOTCH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.15303023G>C (hg19) chr19:g.15192212G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192212G>C , CM000681.2:g.15192212G>C GRCh38
NC_000019.9:g.15303023G>C , CM000681.1:g.15303023G>C GRCh37
NC_000019.8:g.15164023G>C NCBI36
NG_009819.1:g.13770C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.427C>G MANE Select ENSP00000263388.1:p.Leu143Val
ENST00000263388.6:c.427C>G ENSP00000263388.1:p.Leu143Val
ENST00000601011.1:c.424C>G ENSP00000473138.1:p.Leu142Val
NM_000435.2:c.427C>G NP_000426.2:p.Leu143Val
XM_005259924.3:c.427C>G XP_005259981.1:p.Leu143Val
XM_005259924.4:c.427C>G XP_005259981.1:p.Leu143Val
NM_000435.3:c.427C>G MANE Select NP_000426.2:p.Leu143Val
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