Canonical Allele Identifier: CA449729723
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1183189248
MyVariant Identifiers: chr6:g.32190490C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222713C>G , CM000668.2:g.32222713C>G GRCh38
NC_000006.11:g.32190490C>G , CM000668.1:g.32190490C>G GRCh37
NC_000006.10:g.32298468C>G NCBI36
NG_028190.1:g.6355G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.249G>C MANE Select ENSP00000364163.3:p.Leu83=
ENST00000473562.1:n.378G>C
NM_004557.3:c.249G>C NP_004548.3:p.Leu83=
NR_134949.1:n.388G>C
NR_134950.1:n.388G>C
NM_004557.4:c.249G>C MANE Select NP_004548.3:p.Leu83=
NR_134949.2:n.388G>C
NR_134950.2:n.388G>C