Canonical Allele Identifier: CA4387342
Gene: ACTL6B HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.100655545C>G
GRCh37 chr7:g.100253168C>G
Revel Score:
ENST00000160382 (MANE Select) 0.287
gnomAD v2:
7:100253168 C / G
gnomAD v3:
7:100655545 C / G
gnomAD v4:
chr7-100655545-C-G
Joint Max Group AF 0.00144657 (NFE)
Genomes Max Group AF 0.00220624 (NFE)
Exomes Max Group AF 0.00138401 (NFE)
ClinVar RCV:
RCV001702303
ClinVar Variation:
1285116
dbSNP:
141807780
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100655545C>G , CM000669.2:g.100655545C>G GRCh38
NC_000007.13:g.100253168C>G , CM000669.1:g.100253168C>G GRCh37
NC_000007.12:g.100091104C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.144G>C MANE Select ENSP00000160382.5:p.Glu48Asp
ENST00000160382.9:c.144G>C ENSP00000160382.5:p.Glu48Asp
ENST00000461605.1:c.-100G>C ENSP00000420151.1:n.-100G>C
ENST00000485601.5:n.225G>C
ENST00000487225.5:n.372G>C
NM_016188.4:c.144G>C NP_057272.1:p.Glu48Asp
XR_927476.1:n.251G>C
NR_134539.1:n.251G>C
NM_016188.5:c.144G>C MANE Select NP_057272.1:p.Glu48Asp
NR_134539.2:n.238G>C
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