Canonical Allele Identifier: CA404512896

Gene: NOTCH3

Linked Data

• MyVariant Identifiers: chr19:g.15290892G>C (hg19) ; chr19:g.15180081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180081G>C , CM000681.2:g.15180081G>C	GRCh38
NC_000019.9:g.15290892G>C , CM000681.1:g.15290892G>C	GRCh37
NC_000019.8:g.15151892G>C	NCBI36
NG_009819.1:g.25901C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3318C>G MANE Select	ENSP00000263388.1:p.Tyr1106Ter
ENST00000263388.6:c.3318C>G	ENSP00000263388.1:p.Tyr1106Ter
ENST00000601011.1:c.3159C>G	ENSP00000473138.1:p.Tyr1053Ter
NM_000435.2:c.3318C>G	NP_000426.2:p.Tyr1106Ter
XM_005259924.3:c.3162C>G	XP_005259981.1:p.Tyr1054Ter
XM_005259924.4:c.3162C>G	XP_005259981.1:p.Tyr1054Ter
NM_000435.3:c.3318C>G MANE Select	NP_000426.2:p.Tyr1106Ter