Canonical Allele Identifier: CA368542296
Gene: ACTL6B HGNC NCBI

Linked Data

ClinVar Variation Id: 2321170
ClinVar RCV Id: RCV002893657
gnomAD v4: 7-100646616-C-T
MyVariant Identifiers: chr7:g.100244239C>T (hg19) chr7:g.100646616C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646616C>T , CM000669.2:g.100646616C>T GRCh38
NC_000007.13:g.100244239C>T , CM000669.1:g.100244239C>T GRCh37
NC_000007.12:g.100082175C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1048G>A MANE Select ENSP00000160382.5:p.Gly350Arg
ENST00000160382.9:c.1048G>A ENSP00000160382.5:p.Gly350Arg
ENST00000487125.1:n.610G>A
NM_016188.4:c.1048G>A NP_057272.1:p.Gly350Arg
XR_927476.1:n.1155G>A
NR_134539.1:n.1155G>A
NM_016188.5:c.1048G>A MANE Select NP_057272.1:p.Gly350Arg
NR_134539.2:n.1142G>A
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