Canonical Allele Identifier: CA404513280

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15180140-G-A
• COSMIC: COSM3529557 ; COSM3529558
• MyVariant Identifiers: chr19:g.15290951G>A (hg19) ; chr19:g.15180140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180140G>A , CM000681.2:g.15180140G>A	GRCh38
NC_000019.9:g.15290951G>A , CM000681.1:g.15290951G>A	GRCh37
NC_000019.8:g.15151951G>A	NCBI36
NG_009819.1:g.25842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3259C>T MANE Select	ENSP00000263388.1:p.Pro1087Ser
ENST00000263388.6:c.3259C>T	ENSP00000263388.1:p.Pro1087Ser
ENST00000601011.1:c.3100C>T	ENSP00000473138.1:p.Pro1034Ser
NM_000435.2:c.3259C>T	NP_000426.2:p.Pro1087Ser
XM_005259924.3:c.3103C>T	XP_005259981.1:p.Pro1035Ser
XM_005259924.4:c.3103C>T	XP_005259981.1:p.Pro1035Ser
NM_000435.3:c.3259C>T MANE Select	NP_000426.2:p.Pro1087Ser