Canonical Allele Identifier: CA1619472688

Gene: NOTCH4

Linked Data

• dbSNP Id: rs1206951007
• gnomAD v4: 6-32220531-T-TCA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32220539_32220540dup , CM000668.2:g.32220539_32220540dup	GRCh38
NC_000006.11:g.32188316_32188317dup , CM000668.1:g.32188316_32188317dup	GRCh37
NC_000006.10:g.32296294_32296295dup	NCBI36
NG_028190.1:g.8535_8536dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375023.3:c.1031_1032dup MANE Select	ENSP00000364163.3:p.Ser345Ter
ENST00000473562.1:n.1160_1161dup
NM_004557.3:c.1031_1032dup	NP_004548.3:p.Ser345Ter
NR_134949.1:n.1170_1171dup
NR_134950.1:n.1170_1171dup
NM_004557.4:c.1031_1032dup MANE Select	NP_004548.3:p.Ser345Ter
NR_134949.2:n.1170_1171dup
NR_134950.2:n.1170_1171dup