Canonical Allele Identifier: CA363547954
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127467738
gnomAD v4: 6-32202572-T-C
MyVariant Identifiers: chr6:g.32170349T>C (hg19) chr6:g.32202572T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202572T>C , CM000668.2:g.32202572T>C GRCh38
NC_000006.11:g.32170349T>C , CM000668.1:g.32170349T>C GRCh37
NC_000006.10:g.32278327T>C NCBI36
NG_028190.1:g.26496A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3259A>G MANE Select ENSP00000364163.3:p.Arg1087Gly
ENST00000474612.1:n.1345A>G
NM_004557.3:c.3259A>G NP_004548.3:p.Arg1087Gly
NR_134949.1:n.3473-1072A>G
NR_134950.1:n.3371-1072A>G
NM_004557.4:c.3259A>G MANE Select NP_004548.3:p.Arg1087Gly
NR_134949.2:n.3473-1072A>G
NR_134950.2:n.3371-1072A>G
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