Canonical Allele Identifier: CA363547952
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127467738
MyVariant Identifiers: chr6:g.32170349T>A (hg19) chr6:g.32202572T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3259A>T MANE Select ENSP00000364163.3:p.Arg1087Trp
ENST00000474612.1:n.1345A>T
NM_004557.3:c.3259A>T NP_004548.3:p.Arg1087Trp
NR_134949.1:n.3473-1072A>T
NR_134950.1:n.3371-1072A>T
NM_004557.4:c.3259A>T MANE Select NP_004548.3:p.Arg1087Trp
NR_134949.2:n.3473-1072A>T
NR_134950.2:n.3371-1072A>T
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