Canonical Allele Identifier: CA113870929
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs146320422
COSMIC: COSM107154
MyVariant Identifiers: chr5:g.10286488G>A (hg19) chr5:g.10286376G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286376G>A , CM000667.2:g.10286376G>A GRCh38
NC_000005.9:g.10286488G>A , CM000667.1:g.10286488G>A GRCh37
NC_000005.8:g.10339488G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.444C>T MANE Select ENSP00000296658.3:p.Phe148=
ENST00000296658.3:c.444C>T ENSP00000296658.3:p.Phe148=
ENST00000506821.1:n.698C>T
ENST00000510532.5:n.512C>T
ENST00000511963.5:n.552C>T
NM_138809.3:c.444C>T NP_620164.1:p.Phe148=
NM_138809.4:c.444C>T MANE Select NP_620164.1:p.Phe148=
Search 100 bp 5'
Search 100 bp 3'