Canonical Allele Identifier: CA404533087

Gene: NOTCH3

Linked Data

• ClinVar Variation Id: 1807387
• ClinVar RCV Id: RCV002475344
• MyVariant Identifiers: chr19:g.15302786A>G (hg19) ; chr19:g.15191975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191975A>G , CM000681.2:g.15191975A>G	GRCh38
NC_000019.9:g.15302786A>G , CM000681.1:g.15302786A>G	GRCh37
NC_000019.8:g.15163786A>G	NCBI36
NG_009819.1:g.14007T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263388.7:c.664T>C MANE Select	ENSP00000263388.1:p.Cys222Arg
ENST00000263388.6:c.664T>C	ENSP00000263388.1:p.Cys222Arg
ENST00000601011.1:c.661T>C	ENSP00000473138.1:p.Cys221Arg
NM_000435.2:c.664T>C	NP_000426.2:p.Cys222Arg
XM_005259924.3:c.664T>C	XP_005259981.1:p.Cys222Arg
XM_005259924.4:c.664T>C	XP_005259981.1:p.Cys222Arg
NM_000435.3:c.664T>C MANE Select	NP_000426.2:p.Cys222Arg