Canonical Allele Identifier: CA404513634

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15290995C>A (hg19) ; chr19:g.15180184C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180184C>A , CM000681.2:g.15180184C>A	GRCh38
NC_000019.9:g.15290995C>A , CM000681.1:g.15290995C>A	GRCh37
NC_000019.8:g.15151995C>A	NCBI36
NG_009819.1:g.25798G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3215G>T MANE Select	ENSP00000263388.1:p.Cys1072Phe
ENST00000263388.6:c.3215G>T	ENSP00000263388.1:p.Cys1072Phe
ENST00000601011.1:c.3056G>T	ENSP00000473138.1:p.Cys1019Phe
NM_000435.2:c.3215G>T	NP_000426.2:p.Cys1072Phe
XM_005259924.3:c.3059G>T	XP_005259981.1:p.Cys1020Phe
XM_005259924.4:c.3059G>T	XP_005259981.1:p.Cys1020Phe
NM_000435.3:c.3215G>T MANE Select	NP_000426.2:p.Cys1072Phe