Canonical Allele Identifier: CA404524268

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15186950-T-C
• MyVariant Identifiers: chr19:g.15297761T>C (hg19) ; chr19:g.15186950T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15186950T>C , CM000681.2:g.15186950T>C	GRCh38
NC_000019.9:g.15297761T>C , CM000681.1:g.15297761T>C	GRCh37
NC_000019.8:g.15158761T>C	NCBI36
NG_009819.1:g.19032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1879A>G MANE Select	ENSP00000263388.1:p.Asn627Asp
ENST00000263388.6:c.1879A>G	ENSP00000263388.1:p.Asn627Asp
ENST00000601011.1:c.1876A>G	ENSP00000473138.1:p.Asn626Asp
NM_000435.2:c.1879A>G	NP_000426.2:p.Asn627Asp
XM_005259924.3:c.1879A>G	XP_005259981.1:p.Asn627Asp
XM_005259924.4:c.1879A>G	XP_005259981.1:p.Asn627Asp
NM_000435.3:c.1879A>G MANE Select	NP_000426.2:p.Asn627Asp