Canonical Allele Identifier: CA404532823

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15302654A>G (hg19) ; chr19:g.15191843A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191843A>G , CM000681.2:g.15191843A>G	GRCh38
NC_000019.9:g.15302654A>G , CM000681.1:g.15302654A>G	GRCh37
NC_000019.8:g.15163654A>G	NCBI36
NG_009819.1:g.14139T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.704T>C MANE Select	ENSP00000263388.1:p.Val235Ala
ENST00000263388.6:c.704T>C	ENSP00000263388.1:p.Val235Ala
ENST00000601011.1:c.701T>C	ENSP00000473138.1:p.Val234Ala
NM_000435.2:c.704T>C	NP_000426.2:p.Val235Ala
XM_005259924.3:c.704T>C	XP_005259981.1:p.Val235Ala
XM_005259924.4:c.704T>C	XP_005259981.1:p.Val235Ala
NM_000435.3:c.704T>C MANE Select	NP_000426.2:p.Val235Ala