Canonical Allele Identifier: CA404533152

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15302800T>G (hg19) ; chr19:g.15191989T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191989T>G , CM000681.2:g.15191989T>G	GRCh38
NC_000019.9:g.15302800T>G , CM000681.1:g.15302800T>G	GRCh37
NC_000019.8:g.15163800T>G	NCBI36
NG_009819.1:g.13993A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.650A>C MANE Select	ENSP00000263388.1:p.Asp217Ala
ENST00000263388.6:c.650A>C	ENSP00000263388.1:p.Asp217Ala
ENST00000601011.1:c.647A>C	ENSP00000473138.1:p.Asp216Ala
NM_000435.2:c.650A>C	NP_000426.2:p.Asp217Ala
XM_005259924.3:c.650A>C	XP_005259981.1:p.Asp217Ala
XM_005259924.4:c.650A>C	XP_005259981.1:p.Asp217Ala
NM_000435.3:c.650A>C MANE Select	NP_000426.2:p.Asp217Ala