Canonical Allele Identifier: CA506078665
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1305679321
gnomAD v4: 19-15192024-T-C
MyVariant Identifiers: chr19:g.15302835T>C (hg19) chr19:g.15192024T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192024T>C , CM000681.2:g.15192024T>C GRCh38
NC_000019.9:g.15302835T>C , CM000681.1:g.15302835T>C GRCh37
NC_000019.8:g.15163835T>C NCBI36
NG_009819.1:g.13958A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.615A>G MANE Select ENSP00000263388.1:p.Pro205=
ENST00000263388.6:c.615A>G ENSP00000263388.1:p.Pro205=
ENST00000601011.1:c.612A>G ENSP00000473138.1:p.Pro204=
NM_000435.2:c.615A>G NP_000426.2:p.Pro205=
XM_005259924.3:c.615A>G XP_005259981.1:p.Pro205=
XM_005259924.4:c.615A>G XP_005259981.1:p.Pro205=
NM_000435.3:c.615A>G MANE Select NP_000426.2:p.Pro205=
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