Canonical Allele Identifier: CA506078924
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1599395004
MyVariant Identifiers: chr19:g.15303009T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192198T>G , CM000681.2:g.15192198T>G GRCh38
NC_000019.9:g.15303009T>G , CM000681.1:g.15303009T>G GRCh37
NC_000019.8:g.15164009T>G NCBI36
NG_009819.1:g.13784A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.441A>C MANE Select ENSP00000263388.1:p.Pro147=
ENST00000263388.6:c.441A>C ENSP00000263388.1:p.Pro147=
ENST00000601011.1:c.438A>C ENSP00000473138.1:p.Pro146=
NM_000435.2:c.441A>C NP_000426.2:p.Pro147=
XM_005259924.3:c.441A>C XP_005259981.1:p.Pro147=
XM_005259924.4:c.441A>C XP_005259981.1:p.Pro147=
NM_000435.3:c.441A>C MANE Select NP_000426.2:p.Pro147=
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