Canonical Allele Identifier: CA404513736

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15291011A>C (hg19) ; chr19:g.15180200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180200A>C , CM000681.2:g.15180200A>C	GRCh38
NC_000019.9:g.15291011A>C , CM000681.1:g.15291011A>C	GRCh37
NC_000019.8:g.15152011A>C	NCBI36
NG_009819.1:g.25782T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3199T>G MANE Select	ENSP00000263388.1:p.Ser1067Ala
ENST00000263388.6:c.3199T>G	ENSP00000263388.1:p.Ser1067Ala
ENST00000601011.1:c.3040T>G	ENSP00000473138.1:p.Ser1014Ala
NM_000435.2:c.3199T>G	NP_000426.2:p.Ser1067Ala
XM_005259924.3:c.3043T>G	XP_005259981.1:p.Ser1015Ala
XM_005259924.4:c.3043T>G	XP_005259981.1:p.Ser1015Ala
NM_000435.3:c.3199T>G MANE Select	NP_000426.2:p.Ser1067Ala