Canonical Allele Identifier: CA404513459
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1237617835
gnomAD v2: 19-15290971-T-G
gnomAD v3: 19-15180160-T-G
gnomAD v4: 19-15180160-T-G
MyVariant Identifiers: chr19:g.15290971T>G (hg19) chr19:g.15180160T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180160T>G , CM000681.2:g.15180160T>G GRCh38
NC_000019.9:g.15290971T>G , CM000681.1:g.15290971T>G GRCh37
NC_000019.8:g.15151971T>G NCBI36
NG_009819.1:g.25822A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3239A>C MANE Select ENSP00000263388.1:p.His1080Pro
ENST00000263388.6:c.3239A>C ENSP00000263388.1:p.His1080Pro
ENST00000601011.1:c.3080A>C ENSP00000473138.1:p.His1027Pro
NM_000435.2:c.3239A>C NP_000426.2:p.His1080Pro
XM_005259924.3:c.3083A>C XP_005259981.1:p.His1028Pro
XM_005259924.4:c.3083A>C XP_005259981.1:p.His1028Pro
NM_000435.3:c.3239A>C MANE Select NP_000426.2:p.His1080Pro
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