Canonical Allele Identifier: CA506078660
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145441365
MyVariant Identifiers: chr19:g.15302829A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192018A>T , CM000681.2:g.15192018A>T GRCh38
NC_000019.9:g.15302829A>T , CM000681.1:g.15302829A>T GRCh37
NC_000019.8:g.15163829A>T NCBI36
NG_009819.1:g.13964T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.621T>A MANE Select ENSP00000263388.1:p.Arg207=
ENST00000263388.6:c.621T>A ENSP00000263388.1:p.Arg207=
ENST00000601011.1:c.618T>A ENSP00000473138.1:p.Arg206=
NM_000435.2:c.621T>A NP_000426.2:p.Arg207=
XM_005259924.3:c.621T>A XP_005259981.1:p.Arg207=
XM_005259924.4:c.621T>A XP_005259981.1:p.Arg207=
NM_000435.3:c.621T>A MANE Select NP_000426.2:p.Arg207=
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Search 100 bp 3'