Canonical Allele Identifier: CA305775009
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1019920355

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187303C>T , CM000681.2:g.15187303C>T GRCh38
NC_000019.9:g.15298114C>T , CM000681.1:g.15298114C>T GRCh37
NC_000019.8:g.15159114C>T NCBI36
NG_009819.1:g.18679G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1642G>A MANE Select ENSP00000263388.1:p.Asp548Asn
ENST00000263388.6:c.1642G>A ENSP00000263388.1:p.Asp548Asn
ENST00000601011.1:c.1639G>A ENSP00000473138.1:p.Asp547Asn
NM_000435.2:c.1642G>A NP_000426.2:p.Asp548Asn
XM_005259924.3:c.1642G>A XP_005259981.1:p.Asp548Asn
XM_005259924.4:c.1642G>A XP_005259981.1:p.Asp548Asn
NM_000435.3:c.1642G>A MANE Select NP_000426.2:p.Asp548Asn