Canonical Allele Identifier: CA368543714
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100647264-C-A
COSMIC: COSM374587
MyVariant Identifiers: chr7:g.100244887C>A (hg19) chr7:g.100647264C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647264C>A , CM000669.2:g.100647264C>A GRCh38
NC_000007.13:g.100244887C>A , CM000669.1:g.100244887C>A GRCh37
NC_000007.12:g.100082823C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.780G>T MANE Select ENSP00000160382.5:p.Gln260His
ENST00000160382.9:c.780G>T ENSP00000160382.5:p.Gln260His
ENST00000487125.1:n.316G>T
NM_016188.4:c.780G>T NP_057272.1:p.Gln260His
XR_927476.1:n.887G>T
NR_134539.1:n.887G>T
NM_016188.5:c.780G>T MANE Select NP_057272.1:p.Gln260His
NR_134539.2:n.874G>T
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