Canonical Allele Identifier: CA404513689

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15291002A>G (hg19) ; chr19:g.15180191A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180191A>G , CM000681.2:g.15180191A>G	GRCh38
NC_000019.9:g.15291002A>G , CM000681.1:g.15291002A>G	GRCh37
NC_000019.8:g.15152002A>G	NCBI36
NG_009819.1:g.25791T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3208T>C MANE Select	ENSP00000263388.1:p.Cys1070Arg
ENST00000263388.6:c.3208T>C	ENSP00000263388.1:p.Cys1070Arg
ENST00000601011.1:c.3049T>C	ENSP00000473138.1:p.Cys1017Arg
NM_000435.2:c.3208T>C	NP_000426.2:p.Cys1070Arg
XM_005259924.3:c.3052T>C	XP_005259981.1:p.Cys1018Arg
XM_005259924.4:c.3052T>C	XP_005259981.1:p.Cys1018Arg
NM_000435.3:c.3208T>C MANE Select	NP_000426.2:p.Cys1070Arg