Canonical Allele Identifier: CA3198623
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs376709839
ExAC: 5:10286570 C / A
gnomAD v3: 5-10286458-C-A
gnomAD v4: 5-10286458-C-A
MyVariant Identifiers: chr5:g.10286570C>A (hg19) chr5:g.10286458C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286458C>A , CM000667.2:g.10286458C>A GRCh38
NC_000005.9:g.10286570C>A , CM000667.1:g.10286570C>A GRCh37
NC_000005.8:g.10339570C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.362G>T MANE Select ENSP00000296658.3:p.Cys121Phe
ENST00000296658.3:c.362G>T ENSP00000296658.3:p.Cys121Phe
ENST00000506821.1:n.616G>T
ENST00000510532.5:n.430G>T
ENST00000511963.5:n.470G>T
NM_138809.3:c.362G>T NP_620164.1:p.Cys121Phe
NM_138809.4:c.362G>T MANE Select NP_620164.1:p.Cys121Phe
Search 100 bp 5'
Search 100 bp 3'