Canonical Allele Identifier: CA4387048
Gene: ACTL6B HGNC NCBI

Linked Data

ClinVar Variation Id: 828105
ClinVar RCV Id: RCV001027972
dbSNP Id: rs755138493
ExAC: 7:100244200 G / A
gnomAD v2: 7-100244200-G-A
gnomAD v4: 7-100646577-G-A
COSMIC: COSM5458038
MyVariant Identifiers: chr7:g.100244200G>A (hg19) chr7:g.100646577G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646577G>A , CM000669.2:g.100646577G>A GRCh38
NC_000007.13:g.100244200G>A , CM000669.1:g.100244200G>A GRCh37
NC_000007.12:g.100082136G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1087C>T MANE Select ENSP00000160382.5:p.Arg363Ter
ENST00000160382.9:c.1087C>T ENSP00000160382.5:p.Arg363Ter
ENST00000487125.1:n.649C>T
NM_016188.4:c.1087C>T NP_057272.1:p.Arg363Ter
XR_927476.1:n.1194C>T
NR_134539.1:n.1194C>T
NM_016188.5:c.1087C>T MANE Select NP_057272.1:p.Arg363Ter
NR_134539.2:n.1181C>T
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