Canonical Allele Identifier: CA363548004
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127467764
MyVariant Identifiers: chr6:g.32170361T>G (hg19) chr6:g.32202584T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202584T>G , CM000668.2:g.32202584T>G GRCh38
NC_000006.11:g.32170361T>G , CM000668.1:g.32170361T>G GRCh37
NC_000006.10:g.32278339T>G NCBI36
NG_028190.1:g.26484A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3247A>C MANE Select ENSP00000364163.3:p.Thr1083Pro
ENST00000474612.1:n.1333A>C
NM_004557.3:c.3247A>C NP_004548.3:p.Thr1083Pro
NR_134949.1:n.3473-1084A>C
NR_134950.1:n.3371-1084A>C
NM_004557.4:c.3247A>C MANE Select NP_004548.3:p.Thr1083Pro
NR_134949.2:n.3473-1084A>C
NR_134950.2:n.3371-1084A>C
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