Canonical Allele Identifier: CA505824676
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145420795
MyVariant Identifiers: chr19:g.15291066C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180255C>G , CM000681.2:g.15180255C>G GRCh38
NC_000019.9:g.15291066C>G , CM000681.1:g.15291066C>G GRCh37
NC_000019.8:g.15152066C>G NCBI36
NG_009819.1:g.25727G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3144G>C MANE Select ENSP00000263388.1:p.Gly1048=
ENST00000263388.6:c.3144G>C ENSP00000263388.1:p.Gly1048=
ENST00000601011.1:c.2985G>C ENSP00000473138.1:p.Gly995=
NM_000435.2:c.3144G>C NP_000426.2:p.Gly1048=
XM_005259924.3:c.2988G>C XP_005259981.1:p.Gly996=
XM_005259924.4:c.2988G>C XP_005259981.1:p.Gly996=
NM_000435.3:c.3144G>C MANE Select NP_000426.2:p.Gly1048=
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