Canonical Allele Identifier: CA506078657

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2145440265
• MyVariant Identifiers: chr19:g.15302458G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191647G>A , CM000681.2:g.15191647G>A	GRCh38
NC_000019.9:g.15302458G>A , CM000681.1:g.15302458G>A	GRCh37
NC_000019.8:g.15163458G>A	NCBI36
NG_009819.1:g.14335C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.813C>T MANE Select	ENSP00000263388.1:p.Cys271=
ENST00000263388.6:c.813C>T	ENSP00000263388.1:p.Cys271=
ENST00000601011.1:c.810C>T	ENSP00000473138.1:p.Cys270=
NM_000435.2:c.813C>T	NP_000426.2:p.Cys271=
XM_005259924.3:c.813C>T	XP_005259981.1:p.Cys271=
XM_005259924.4:c.813C>T	XP_005259981.1:p.Cys271=
NM_000435.3:c.813C>T MANE Select	NP_000426.2:p.Cys271=