Canonical Allele Identifier: CA4387151
Gene: ACTL6B HGNC NCBI

Linked Data

ClinVar Variation Id: 2500144
ClinVar RCV Id: RCV003331540
dbSNP Id: rs760096533
ExAC: 7:100244908 C / T
gnomAD v2: 7-100244908-C-T
gnomAD v4: 7-100647285-C-T
MyVariant Identifiers: chr7:g.100244908C>T (hg19) chr7:g.100647285C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647285C>T , CM000669.2:g.100647285C>T GRCh38
NC_000007.13:g.100244908C>T , CM000669.1:g.100244908C>T GRCh37
NC_000007.12:g.100082844C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.760-1G>A MANE Select ENSP00000160382.5:n.760-1G>A
ENST00000160382.9:c.760-1G>A ENSP00000160382.5:n.760-1G>A
ENST00000487125.1:n.296-1G>A
NM_016188.4:c.760-1G>A NP_057272.1:n.760-1G>A
XR_927476.1:n.867-1G>A
NR_134539.1:n.867-1G>A
NM_016188.5:c.760-1G>A MANE Select NP_057272.1:n.760-1G>A
NR_134539.2:n.854-1G>A
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