Canonical Allele Identifier: CA4387113
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs780636767
ExAC: 7:100244632 G / A
gnomAD v2: 7-100244632-G-A
gnomAD v4: 7-100647009-G-A
COSMIC: COSM4512297
MyVariant Identifiers: chr7:g.100244632G>A (hg19) chr7:g.100647009G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647009G>A , CM000669.2:g.100647009G>A GRCh38
NC_000007.13:g.100244632G>A , CM000669.1:g.100244632G>A GRCh37
NC_000007.12:g.100082568G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.898C>T MANE Select ENSP00000160382.5:p.Arg300Cys
ENST00000160382.9:c.898C>T ENSP00000160382.5:p.Arg300Cys
ENST00000487125.1:n.460C>T
NM_016188.4:c.898C>T NP_057272.1:p.Arg300Cys
XR_927476.1:n.1005C>T
NR_134539.1:n.1005C>T
NM_016188.5:c.898C>T MANE Select NP_057272.1:p.Arg300Cys
NR_134539.2:n.992C>T
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