Canonical Allele Identifier: CA3740135

Gene: NOTCH4

Linked Data

• dbSNP Id: rs746412907
• ExAC: 6:32188586 G / C
• gnomAD v2: 6-32188586-G-C
• gnomAD v4: 6-32220809-G-C
• MyVariant Identifiers: chr6:g.32188586G>C (hg19) ; chr6:g.32188586_32188587delinsCT (hg19) ; chr6:g.32220809G>C (hg38) ; chr6:g.32220809_32220810delinsCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32220809G>C , CM000668.2:g.32220809G>C	GRCh38
NC_000006.11:g.32188586G>C , CM000668.1:g.32188586G>C	GRCh37
NC_000006.10:g.32296564G>C	NCBI36
NG_028190.1:g.8259C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375023.3:c.869C>G MANE Select	ENSP00000364163.3:p.Thr290Ser
ENST00000473562.1:n.998C>G
NM_004557.3:c.869C>G	NP_004548.3:p.Thr290Ser
NR_134949.1:n.1008C>G
NR_134950.1:n.1008C>G
NM_004557.4:c.869C>G MANE Select	NP_004548.3:p.Thr290Ser
NR_134949.2:n.1008C>G
NR_134950.2:n.1008C>G