Canonical Allele Identifier: CA368543808
Gene: ACTL6B HGNC NCBI

Linked Data

ClinVar Variation Id: 2657753
ClinVar RCV Id: RCV003423673
dbSNP Id: rs1562848455
gnomAD v2: 7-100244897-T-C
gnomAD v3: 7-100647274-T-C
gnomAD v4: 7-100647274-T-C
MyVariant Identifiers: chr7:g.100244897T>C (hg19) chr7:g.100647274T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647274T>C , CM000669.2:g.100647274T>C GRCh38
NC_000007.13:g.100244897T>C , CM000669.1:g.100244897T>C GRCh37
NC_000007.12:g.100082833T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.770A>G MANE Select ENSP00000160382.5:p.Gln257Arg
ENST00000160382.9:c.770A>G ENSP00000160382.5:p.Gln257Arg
ENST00000487125.1:n.306A>G
NM_016188.4:c.770A>G NP_057272.1:p.Gln257Arg
XR_927476.1:n.877A>G
NR_134539.1:n.877A>G
NM_016188.5:c.770A>G MANE Select NP_057272.1:p.Gln257Arg
NR_134539.2:n.864A>G
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