Canonical Allele Identifier: CA4387146
Gene: ACTL6B HGNC NCBI

Linked Data

ClinVar Variation Id: 2657752
ClinVar RCV Id: RCV003433982
dbSNP Id: rs147582494
ExAC: 7:100244881 G / A
gnomAD v2: 7-100244881-G-A
gnomAD v3: 7-100647258-G-A
gnomAD v4: 7-100647258-G-A
MyVariant Identifiers: chr7:g.100244881G>A (hg19) chr7:g.100647258G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647258G>A , CM000669.2:g.100647258G>A GRCh38
NC_000007.13:g.100244881G>A , CM000669.1:g.100244881G>A GRCh37
NC_000007.12:g.100082817G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.786C>T MANE Select ENSP00000160382.5:p.Ser262=
ENST00000160382.9:c.786C>T ENSP00000160382.5:p.Ser262=
ENST00000487125.1:n.322C>T
NM_016188.4:c.786C>T NP_057272.1:p.Ser262=
XR_927476.1:n.893C>T
NR_134539.1:n.893C>T
NM_016188.5:c.786C>T MANE Select NP_057272.1:p.Ser262=
NR_134539.2:n.880C>T
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