Canonical Allele Identifier: CA9263585
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs774417667
ExAC: 19:15298089 T / C
gnomAD v2: 19-15298089-T-C
gnomAD v3: 19-15187278-T-C
gnomAD v4: 19-15187278-T-C
MyVariant Identifiers: chr19:g.15298089T>C (hg19) chr19:g.15187278T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187278T>C , CM000681.2:g.15187278T>C GRCh38
NC_000019.9:g.15298089T>C , CM000681.1:g.15298089T>C GRCh37
NC_000019.8:g.15159089T>C NCBI36
NG_009819.1:g.18704A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1667A>G MANE Select ENSP00000263388.1:p.His556Arg
ENST00000263388.6:c.1667A>G ENSP00000263388.1:p.His556Arg
ENST00000601011.1:c.1664A>G ENSP00000473138.1:p.His555Arg
NM_000435.2:c.1667A>G NP_000426.2:p.His556Arg
XM_005259924.3:c.1667A>G XP_005259981.1:p.His556Arg
XM_005259924.4:c.1667A>G XP_005259981.1:p.His556Arg
NM_000435.3:c.1667A>G MANE Select NP_000426.2:p.His556Arg
Search 100 bp 5'
Search 100 bp 3'