Canonical Allele Identifier: CA506078522

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187238-G-A
• MyVariant Identifiers: chr19:g.15298049G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187238G>A , CM000681.2:g.15187238G>A	GRCh38
NC_000019.9:g.15298049G>A , CM000681.1:g.15298049G>A	GRCh37
NC_000019.8:g.15159049G>A	NCBI36
NG_009819.1:g.18744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1707C>T MANE Select	ENSP00000263388.1:p.Ala569=
ENST00000263388.6:c.1707C>T	ENSP00000263388.1:p.Ala569=
ENST00000601011.1:c.1704C>T	ENSP00000473138.1:p.Ala568=
NM_000435.2:c.1707C>T	NP_000426.2:p.Ala569=
XM_005259924.3:c.1707C>T	XP_005259981.1:p.Ala569=
XM_005259924.4:c.1707C>T	XP_005259981.1:p.Ala569=
NM_000435.3:c.1707C>T MANE Select	NP_000426.2:p.Ala569=